ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures

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	Protein Summary
	AS Summary
	Protein Functional Features
	Gene Isoform Structures and Expression Levels
	Protein Structures
	pLDDT Score Distribution
	Ramachandran Plot of Protein Structures
	Potential Active Site Information
	Protein Structure and Feature Comparision
	Protein-Protein Interaction
	Related Drugs
	Related Diseases
	Clinically Important Variants

Protein:ACD

Protein Summary

Gene summary

Gene name: ACD
ASpdb.0 ID: 65057
	Gene
Gene symbol	ACD
Gene ID	65057
Gene name	ACD shelterin complex subunit and telomerase recruitment factor
Synonyms	PIP1\|PTOP\|TINT1\|TPP1
Cytomap	16q22.1
Type of gene	protein-coding
Description	adrenocortical dysplasia protein homologPOT1 and TIN2-interacting proteinTIN2 interacting protein 1adrenocortical dysplasia homolog
Modification date	20240403
UniProtAcc	Q96AP0

Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Gene	ACD	GO:0000723	telomere maintenance	15181449
Gene	ACD	GO:0000781	chromosome, telomeric region	15380063\|23685356\|24270157\|25172512
Gene	ACD	GO:0000783	nuclear telomere cap complex	16880378
Gene	ACD	GO:0016233	telomere capping	21852327\|25172512
Gene	ACD	GO:0016604	nuclear body	-
Gene	ACD	GO:0032212	positive regulation of telomere maintenance via telomerase	17237768
Gene	ACD	GO:0042162	telomeric DNA binding	23685356
Gene	ACD	GO:0051973	positive regulation of telomerase activity	17237768
Gene	ACD	GO:0060381	positive regulation of single-stranded telomeric DNA binding	17237767
Gene	ACD	GO:0070187	shelterin complex	15383534\|23685356
Gene	ACD	GO:0070198	protein localization to chromosome, telomeric region	15181449

AS Summary

Information of the canonical protein with experimentally identified structure from PDB (2023).

UniProt Acc	File name	PDB ID	Method	Resolution	Chain	Start	End
Q96AP0-3	Q96AP0-3_2i46_A.pdb	2I46	X-ray	2.7	A	4	155

ASpdb's canonical and alternatively spliced isoform information.

accession_id

gene_name

canonical_id

alternative_id

canonical_length

alternative_length

canonical_start

canonical_end

type

originalSEQ

variationSEQ

alternative_start

alternative_end

Q96AP0

ACD

Q96AP0-3

Q96AP0-2

458

455

Deletion

none

Multiple sequence alignment of our canonical and alternatively spliced ACD

Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of ACD

UniProt-id	ENSG	ENST	ENSP
Q96AP0-3	ENSG00000102977.18	ENST00000620761.6	ENSP00000478084.1
Q96AP0-2	ENSG00000102977.18	ENST00000219251.13	ENSP00000219251.8

UniProt-id	NM ID	NP ID
Q96AP0-3	NM_001082486.1	NP_001075955.1
Q96AP0-2	NM_022914.2	NP_075065.2

Amino acid sequences of our canonical and alternatively spliced ACD

accession_id	Protein sequence
Q96AP0-3	MAGSGRLVLRPWIRELILGSETPSSPRAGQLLEVLQDAEAAVAGPSHAPDTSDVGATLLVSDGTHSVRCLVTREALDTSDWEEKEFGFRG TEGRLLLLQDCGVHVQVAEGGAPAEFYLQVDRFSLLPTEQPRLRVPGCNQDLDVQKKLYDCLEEHLSESTSSNAGLSLSQLLDEMREDQE HQGALVCLAESCLTLEGPCTAPPVTHWAASRCKATGEAVYTVPSSMLCISENDQLILSSLGPCQRTQGPELPPPDPALQDLSLTLIASPP SSPSSSGTPALPGHMSSEESGTSISLLPALSLAAPDPGQRSSSQPSPAICSAPATLTPRSPHASRTPSSPLQSCTPSLSPRSHVPSPHQA LVTRPQKPSLEFKEFVGLPCKNRPPFPRTGATRGAQEPCSVWEPPKRHRDGSAFQYEYEPPCTSLCARVQAVRLPPQLMAWALHFLMDAQ
Q96AP0-2	MAGSGRLVLRPWIRELILGSETPSSPRAGQLLEDAEAAVAGPSHAPDTSDVGATLLVSDGTHSVRCLVTREALDTSDWEEKEFGFRGTEG RLLLLQDCGVHVQVAEGGAPAEFYLQVDRFSLLPTEQPRLRVPGCNQDLDVQKKLYDCLEEHLSESTSSNAGLSLSQLLDEMREDQEHQG ALVCLAESCLTLEGPCTAPPVTHWAASRCKATGEAVYTVPSSMLCISENDQLILSSLGPCQRTQGPELPPPDPALQDLSLTLIASPPSSP SSSGTPALPGHMSSEESGTSISLLPALSLAAPDPGQRSSSQPSPAICSAPATLTPRSPHASRTPSSPLQSCTPSLSPRSHVPSPHQALVT RPQKPSLEFKEFVGLPCKNRPPFPRTGATRGAQEPCSVWEPPKRHRDGSAFQYEYEPPCTSLCARVQAVRLPPQLMAWALHFLMDAQPGS

Protein Functional Features

Main function of this protein. (from UniProt)

ACD (go to UniProt):Q96AP0

Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Accession_id

Subsection

Start

End

Funcitonal feature

Splicing information

Gene Isoform Structures and Expression Levels for ACD

Gene structures of our canonical and alternative spliced genes of ACD
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Expression levels of gene isoforms across GTEx.

Expression levels of gene isoforms across TCGA.

Protein Structures

PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

3D view using mol* of Q96AP0-3

3D view using mol* of Q96AP0-2

pLDDT Score Distribution

pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

pLDDT distribution across the protein length of Q96AP0-3

pLDDT distribution across the protein length of Q96AP0-2

Ramachandran Plot of Protein Structures

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.

Ramachandran plot of Q96AP0-3

Potential Active Site Information

The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.

UniProt-id	Site score	Size	D score	Volume	Exposure	Enclosure	Contact	Phobic	Philic	Balance	Don/Acc	Residues
Q96AP0-3	0.934	86	0.752	148.519	0.438	0.678	1.016	0.146	1.617	0.09	0.466	75,78,79,80,81,82,83,85,87,91,94,99,122,123,124,12 5,127
Q96AP0-2	0.744	46	0.556	134.456	0.531	0.668	0.959	0.179	1.48	0.121	0.463	6,7,8,9,30,60,127,128,130

Protein Structure and Feature Comparision

Protein Structure Comparision Using Template Modeling Scores (TM-score).

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)

3D view using mol* of Q96AP0-3_Q96AP0-3_2i46_A.pdb

Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q96AP0-3_2i46_A_Q96AP0-2.pdb

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q96AP0-3_Q96AP0-2.pdb

Protein Feature Comparison of the protein sequendary structures among the protiens.

./stats/secondary_structure/figure/Q96AP0-3_vs_Q96AP0-2.png

Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.

./stats/relative_asa/Q96AP0-3_vs_Q96AP0-2.png

Protein-Protein Interaction

Interactors from UniProt.

Accession_id

Subsection

Start

End

Funcitonal feature

Splicing information

Interactors from STRING.

Gene name

Interactors

Related Drugs to ACD

Drugs targeting this gene/protein.
(DrugBank)

UniProt accession

Gene name

DrugBank ID

Drug name

Drug group

Actions

Related Diseases to ACD

Previous studies relating to the alternative splicing of ACD and disease information from the MeSH term (PubMed)

Gene

PMID

Title

Abstract

MeSH ID

MeSH term

Clinically important variants in ACD

(ClinVar, 04/20/2024)

accession_id	uniprot_id	gene_name	Type	Variant	Clinical_significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu60Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu60Arg	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Cys5Tyr	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Cys5Tyr	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Deletion	p.Arg46Leufs	Conflicting classifications of pathogenicity
Q96AP0	Q96AP0-2	ACD	Deletion	p.Arg46Leufs	Conflicting classifications of pathogenicity
Q96AP0	Q96AP0-2	ACD	Inversion	p.Trp24Ser	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Inversion	p.Trp24Ser	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg39His	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg39His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala40Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala40Val	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala70Val	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala70Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Asp	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Asp	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.His30Tyr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.His30Tyr	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Deletion	p.Arg48Glyfs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Deletion	p.Arg48Glyfs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Deletion	p.Trp24Valfs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Deletion	p.Trp24Valfs	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gln41Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gln41Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly36Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly36Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala20Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala20Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala70Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala70Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser26Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser26Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser7Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser7Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala72Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala72Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly27Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly27Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Glu59Lys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Glu59Lys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly23Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly23Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg37Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg37Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro33Ser	Conflicting classifications of pathogenicity
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro33Ser	Conflicting classifications of pathogenicity
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala35Thr	Conflicting classifications of pathogenicity
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala35Thr	Conflicting classifications of pathogenicity
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly44Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly44Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr31Ala	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr31Ala	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg43Gln	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg43Gln	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala42Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala42Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro63Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro63Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly15Arg	Conflicting classifications of pathogenicity
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly15Arg	Conflicting classifications of pathogenicity
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Val13Ile	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Val13Ile	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly36Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly36Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg53Trp	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg53Trp	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr25Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr25Ser	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Pro33His	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Pro33His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro38Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro38Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Met11Ile	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Met11Ile	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Val13Ala	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Val13Ala	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro38Ala	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro38Ala	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg12Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg12Thr	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg39Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg39Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg39Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg39Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg19His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg19His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala20Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala20Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gln41Lys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gln41Lys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro21Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro21Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala17Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala17Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala40Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala40Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg19Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg19Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala22Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala22Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg34Gln	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg34Gln	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly3Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly3Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr31Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr31Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Trp24Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Trp24Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser26Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser26Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu29Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu29Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu29Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu29Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg43Trp	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg43Trp	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr25Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr25Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser26Asn	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser26Asn	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Trp24Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Trp24Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser26Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ser26Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Val45Ala	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Val45Ala	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu50Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu50Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala35Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala35Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly44Asp	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly44Asp	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu52Ile	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu52Ile	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu52Phe	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu52Phe	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro54Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro54Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala57Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala57Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu60Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu60Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu60Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu60Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg46His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg46His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg46Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg46Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu51Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu51Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro54Ser	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro54Ser	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro56Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro56Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Glu59Gln	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Glu59Gln	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Glu59Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Glu59Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu62Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Leu62Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro61Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro61Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly73Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly73Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gln6His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gln6His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg64Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg64Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala68Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala68Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala72Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala72Val	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly67Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly67Glu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg37His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg37His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala70Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala70Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Asp8Asn	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Asp8Asn	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Val45Leu	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Val45Leu	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ser18Phe	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ser18Phe	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Trp24Ter	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Trp24Ter	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg37Ser	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg37Ser	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Gly67Arg	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Gly67Arg	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Deletion	p.Leu52Profs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Deletion	p.Leu52Profs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala42Val	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala42Val	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Pro63Arg	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Pro63Arg	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg4His	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg4His	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Duplication	p.Ser7Glufs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Duplication	p.Ser7Glufs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Microsatellite	p.Leu52_Arg53insLeu	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Microsatellite	p.Leu52_Arg53insLeu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Trp24Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Trp24Cys	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly23Ala	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly23Ala	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro61His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro61His	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro61Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro61Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro61Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro61Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr31Ile	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Thr31Ile	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Trp69Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Trp69Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg34Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg34Leu	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg39Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg39Gly	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala42Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Ala42Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly67Trp	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly67Trp	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro71Ala	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Pro71Ala	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly32Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg19Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg19Pro	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg39Pro	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg39Pro	Likely benign
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg46Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Arg46Ser	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly27Arg	Uncertain significance
Q96AP0	Q96AP0-3	ACD	single nucleotide variant	p.Gly27Arg	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg34Pro	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg34Pro	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg34Gly	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Arg34Gly	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Duplication	p.Arg34Profs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Duplication	p.Arg34Profs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala22Pro	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala22Pro	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Val45Ile	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Val45Ile	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Duplication	p.Val45Glyfs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	Duplication	p.Val45Glyfs	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala40Thr	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala40Thr	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala10Gly	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala10Gly	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala72Pro	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Ala72Pro	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Leu62Phe	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Leu62Phe	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Leu29Gln	Uncertain significance
Q96AP0	Q96AP0-2	ACD	single nucleotide variant	p.Leu29Gln	Uncertain significance