ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
5-138221951-G-A	ENST00000540387	p.Met1?	Start Lost	0	0	0	rs767384077
5-138221963-C-T	ENST00000540387	p.Thr5Thr	Synonymous Variant	0	0	0	rs553345139
5-138221973-C-T	ENST00000540387	p.Arg9Cys	Missense Variant	0	0	0	rs773022966
5-138221974-G-A	ENST00000540387	p.Arg9His	Missense Variant	0	0	0	rs760356703
5-138223182-C-T	ENST00000540387	p.Arg13Cys	Missense Variant	0	0	0	rs779064875
5-138223183-G-A	ENST00000540387	p.Arg13His	Missense Variant	0	0	0	rs780380304
5-138223184-C-T	ENST00000540387	p.Arg13Arg	Synonymous Variant	1	31398	0.000032	rs771938321
5-138223188-G-T	ENST00000540387	p.Ala15Ser	Missense Variant	0	0	0	rs1163870840
5-138223197-G-A	ENST00000540387	p.Asp18Asn	Missense Variant	0	0	0	rs1394423178
5-138223200-C-A	ENST00000540387	p.His19Asn	Missense Variant	0	0	0	rs1460381137
5-138223202-C-T	ENST00000540387	p.His19His	Synonymous Variant	60	31404	0.001911	rs61736921
5-138223203-G-A	ENST00000540387	p.Val20Ile	Missense Variant	0	0	0	rs774427164
5-138223220-G-A	ENST00000540387	p.Leu25Leu	Synonymous Variant	0	0	0	rs748186935
5-138223227-A-C	ENST00000540387	p.Asn28His	Missense Variant	0	0	0	rs773003463
5-138223227-A-G	ENST00000540387	p.Asn28Asp	Missense Variant	1	31406	0.000032	rs773003463
5-138223228-A-G	ENST00000540387	p.Asn28Ser	Missense Variant	7	31402	0.000223	rs200549409
5-138223230-G-A	ENST00000540387	p.Val29Ile	Missense Variant	0	0	0	rs766086208
5-138223241-G-A	ENST00000540387	p.Leu32Leu	Synonymous Variant	0	0	0	rs1052655356
5-138223242-G-A	ENST00000540387	p.Val33Ile	Missense Variant	0	0	0	rs760179421
5-138223245-T-G	ENST00000540387	p.Leu34Val	Missense Variant	0	0	0	rs1258629775

Showing 1 to 20 of 305 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
CTNNA1	P35221	Phosphorylation	118	S118-p	FADDPCSsVKRGNMV	100.07	3653218
CTNNA1	P35221	Ubiquitination	12	K12-ub	HAGNINFkWDPkSLE	100.07	22242857
CTNNA1	P35221	Phosphorylation	148	Y148-p	LADMADVyKLLVQLK	100.07	12186454
CTNNA1	P35221	Ubiquitination	16	K16-ub	INFkWDPkSLEIRTL	100.07	15490237
CTNNA1	P35221	Ubiquitination	163	K163-ub	VVEDGILkLrNAGNE	100.07	27183303
CTNNA1	P35221	Methylation	165	R165-m1	EDGILkLrNAGNEQD	100.07	57735557
CTNNA1	P35221	Phosphorylation	177	Y177-p	EQDLGIQykALkPEV	100.07	457896
CTNNA1	P35221	Ubiquitination	178	K178-ub	QDLGIQykALkPEVD	100.07	15386939
CTNNA1	P35221	Ubiquitination	181	K181-ub	GIQykALkPEVDkLN	100.07	21172322
CTNNA1	P35221	Ubiquitination	186	K186-ub	ALkPEVDkLNIMAAk	100.07	964508362
CTNNA1	P35221	Acetylation	186	K186-ac	ALkPEVDkLNIMAAk	100.07	11323586
CTNNA1	P35221	Ubiquitination	193	K193-ub	kLNIMAAkRQQELkD	100.07	27183283
CTNNA1	P35221	Acetylation	193	K193-ac	kLNIMAAkRQQELkD	100.07	3833036
CTNNA1	P35221	Ubiquitination	199	K199-ub	AkRQQELkDVGHRDQ	100.07	964508364
CTNNA1	P35221	Phosphorylation	2	T2-p	______MtAVHAGNI	100.07	56654139
CTNNA1	P35221	Ubiquitination	216	K216-ub	AARGILQkNVPILyt	100.07	22242854
CTNNA1	P35221	Phosphorylation	222	Y222-p	QkNVPILytASQACL	100.07	3699308
CTNNA1	P35221	Phosphorylation	223	T223-p	kNVPILytASQACLQ	100.07	15418784
CTNNA1	P35221	Phosphorylation	237	Y237-p	QHPDVAAykANRDLI	100.07	10280517
CTNNA1	P35221	Ubiquitination	238	K238-ub	HPDVAAykANRDLIy	100.07	964508366

Showing 1 to 20 of 98 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
CTNNA1_ENST00000540387	ENST00000540387	LICA-CN-HCC079T	liver	other	82307659	c.1245C>A	p.L415=	Substitution - coding silent	PATHOGENIC	.84124	Confirmed somatic variant	PMID: N/A	primary	415
CTNNA1_ENST00000540387	ENST00000540387	MG-100-tumor	meninges	meningioma	82310493	c.34-248A>G	p.?	Unknown	NEUTRAL	.03171	Variant of unknown origin	PMID: 28713588	NS	0
CTNNA1_ENST00000540387	ENST00000540387	5-GE105-T2	skin	carcinoma	82310445	c.1480_1481delinsTT	p.P494L	Substitution - Missense			Variant of unknown origin	PMID: 26950094	NS	494
CTNNA1_ENST00000540387	ENST00000540387	8066067	pancreas	carcinoma	82305068	c.187-7403A>G	p.?	Unknown		.6135	Confirmed somatic variant	PMID: N/A	NS	0
CTNNA1_ENST00000540387	ENST00000540387	DUMC-16	central_nervous_system	glioma	82305599	c.560_585dup	p.G196Pfs*35	Insertion - Frameshift			Confirmed somatic variant	PMID: 29802247	NS	196
CTNNA1_ENST00000540387	ENST00000540387	T_CCA_SG_15	biliary_tract	carcinoma	82302959	c.279+3537_279+3538dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
CTNNA1_ENST00000540387	ENST00000540387	MG-027-tumor	meninges	meningioma	82303903	c.1116C>G	p.V372=	Substitution - coding silent	NEUTRAL	.33636	Variant of unknown origin	PMID: 28713588	NS	372
CTNNA1_ENST00000540387	ENST00000540387	5-GE071-T1	skin	carcinoma	82303534	c.1119C>T	p.I373=	Substitution - coding silent	PATHOGENIC	.76898	Variant of unknown origin	PMID: 26950094	NS	373
CTNNA1_ENST00000540387	ENST00000540387	MG-162-tumor	meninges	meningioma	82308191	c.1323+74A>C	p.?	Unknown	NEUTRAL	.10056	Variant of unknown origin	PMID: 28713588	NS	0
CTNNA1_ENST00000540387	ENST00000540387	HCC173T	liver	carcinoma	82305733	c.1178T>C	p.I393T	Substitution - Missense	PATHOGENIC	.99184	Confirmed somatic variant	PMID: N/A	NS	393
CTNNA1_ENST00000540387	ENST00000540387	YYY-549T	stomach	carcinoma	82310331	c.436+1069A>G	p.?	Unknown	NEUTRAL	.36437	Confirmed somatic variant	PMID: N/A	primary	0
CTNNA1_ENST00000540387	ENST00000540387	nevus-1_12	skin	benign_melanocytic_nevus	82310350	c.886G>T	p.G296C	Substitution - Missense	PATHOGENIC	.99719	Confirmed somatic variant	PMID: 27890785	NS	296
CTNNA1_ENST00000540387	ENST00000540387	MG-147-tumor	meninges	meningioma	82304146	c.1323+282G>A	p.?	Unknown	NEUTRAL	.00979	Variant of unknown origin	PMID: 28713588	NS	0
CTNNA1_ENST00000540387	ENST00000540387	T3182	large_intestine	carcinoma	82305811	c.-5del	p.?	Unknown			Confirmed somatic variant	PMID: 27149842	NS	0
CTNNA1_ENST00000540387	ENST00000540387	60T	liver	other	82307693	c.-48-2599C>G	p.?	Unknown	NEUTRAL	.04831	Confirmed somatic variant	PMID: N/A	primary	0
CTNNA1_ENST00000540387	ENST00000540387	2857126	urinary_tract	carcinoma	82308800	c.596del	p.T199Kfs*23	Deletion - Frameshift			Confirmed somatic variant	PMID: 25096233	NS	199
CTNNA1_ENST00000540387	ENST00000540387	RK101_C01	liver	carcinoma	82308715	c.437-740G>A	p.?	Unknown	NEUTRAL	.0171	Confirmed somatic variant	PMID: N/A	NS	0
CTNNA1_ENST00000540387	ENST00000540387	PD6720a	breast	carcinoma	82308793	c.-48-257C>T	p.?	Unknown	NEUTRAL	.00849	Confirmed somatic variant	PMID: N/A	primary	0
CTNNA1_ENST00000540387	ENST00000540387	CLL158	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	82308834	c.1283C>A	p.A428D	Substitution - Missense	PATHOGENIC	.97982	Confirmed somatic variant	PMID: 23415222	NS	428
CTNNA1_ENST00000540387	ENST00000540387	8053200	pancreas	carcinoma	82306819	c.-49+4836T>G	p.?	Unknown	NEUTRAL	.0756	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 282 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF01044	Vinculin	Vinculin family	333-867	CL0705	VBS-like	Homo sapiens
PF01044	Vinculin	Vinculin family	19-339	CL0705	VBS-like	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Hereditary Nonpolyposis Colorectal Neoplasms	Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.636	0.483
Leukemia, Myelocytic, Acute	Neoplasms ;	0.636	0.483
Acute Myeloid Leukemia, M1	Neoplasms ;	0.636	0.483
Gastrointestinal Stromal Tumors	Neoplasms ; Digestive System Diseases ;	0.636	0.483
Hereditary non-polyposis colorectal cancer syndrome	N/A	0.636	0.483
Hereditary Nonpolyposis Colorectal Cancer	Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.636	0.483
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.636	0.483
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	Eye Diseases ;	0.636	0.483
Patterned dystrophy of retinal pigment epithelium	Eye Diseases ;	0.636	0.483
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.636	0.483
Hematopoetic Myelodysplasia	Hemic and Lymphatic Diseases ;	0.636	0.483
Gastrointestinal Stromal Sarcoma	Neoplasms ; Digestive System Diseases ;	0.636	0.483
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.636	0.483
Butterfly-shaped pigmentary macular dystrophy	N/A	0.636	0.483
NO RESULT FOUND

Description:	catenin alpha 1 [Source:RGD Symbol;Acc:1359485]
Synonyms:	Catna1
Other ID(s):	ENSRNOG00000005796
Protein Accession Numbers:	XP_008770259, XP_017456454, NP_001007146, XP_017456453
Statistics:	ClinVar(6780) gnomAD(305) COSMIC(282) PTM(98)

Classification of Clinicial Significance of ClinVar Data