Results for the protein: Q9UKN7

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MYSc_type_VI	cd01382	1.1e-105	1219	1892
MYSc_type_VIII	cd01383	7.8e-184	1222	1898
MYSc_type_XV	cd01387		1222	1898
MYSc_type_XI	cd01384	1.2e-239	1222	1902
MYSc_type_II	cd01377	1.2e-196	1222	1898
MYSc	cd00124		1223	1898
MYSc_type_V	cd01380	8e-212	1223	1898
MYSc_type_VII	cd01381	4.2e-264	1223	1898
MYSc_type_III	cd01379	2.3e-113	1223	1944
MYSc_type_XVIII	cd01386	5.4e-13	1223	1898
MYSc_type_I	cd01378	1.6e-210	1223	1898
Motor_domain	cd01363	5.3e-27	1258	1798
SH3	cd00174	2.1e-29	2871	2950
COG5022	COG5022	1e-134	1172	2585
Myosin_head	pfam00063	8e-271	1224	1887
IQ	pfam00612	0.00011	1926	1946
MyTH4	pfam00784	1.2e-14	2104	2217
MyTH4	pfam00784	6.4e-27	3090	3204
FERM_M	pfam00373	0.0001	3304	3419
MYSc	smart00242		1217	1899
IQ	smart00015	0.00028	1924	1946
MyTH4	smart00139	6.4e-68	2065	2217
SH3	smart00326	1.7e-27	2868	2951
SH3_2	pfam07653	8.4e-24	2871	2950
MyTH4	smart00139	1.5e-69	3050	3204
B41	smart00295	6.6e-05	3206	3419

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16960959	Polymorphism	p.ALA2490THR	N/A
dbSNP	rs2955365	Polymorphism	p.ALA595THR	N/A
Swiss-Prot	VAR_010303	Disease	p.ASN2111TYR	Deafness, autosomal recessive, 3 (DFNB3)
dbSNP	rs854777	Polymorphism	p.CYS1977ARG	N/A
Swiss-Prot	VAR_037964	Disease	p.GLN2716HIS	Deafness, autosomal recessive, 3 (DFNB3)
dbSNP	rs2272571	Polymorphism	p.GLY2018ARG	N/A
Swiss-Prot	VAR_010304	Disease	p.ILE2113PHE	Deafness, autosomal recessive, 3 (DFNB3)
Swiss-Prot	VAR_037961	Polymorphism	p.THR2205ILE	N/A
dbSNP	rs2955367	Polymorphism	p.TRP718GLY	N/A
dbSNP	rs712270	Polymorphism	p.TYR2682PHE	N/A
OMIM	602666.0002	Disease	p.ASN890TYR	DEAFNESS, AUTOSOMAL RECESSIVE 3
OMIM	602666.0006	Disease	p.GLN2716HIS	DEAFNESS, AUTOSOMAL RECESSIVE 3
OMIM	602666.0004	Disease	p.GLN1229TER	DEAFNESS, AUTOSOMAL RECESSIVE 3
OMIM	602666.0008	Disease	p.GLU1105TER	DEAFNESS, AUTOSOMAL RECESSIVE 3
OMIM	602666.0010	Disease	p.GLY1831VAL	DEAFNESS, AUTOSOMAL RECESSIVE 3
OMIM	602666.0001	Disease	p.ILE892PHE	DEAFNESS, AUTOSOMAL RECESSIVE 3
OMIM	602666.0003	Disease	p.LYS1300TER	DEAFNESS, AUTOSOMAL RECESSIVE 3
OMIM	602666.0007	Disease	p.THR2205ILE	DEAFNESS, WITH SMITH-MAGENIS SYNDROME

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