Results for the protein: Q9UBC5

Results for the Protein: Q9UBC5

13431715

4640

MYO1A

NCBI, UniProt

MYO1A_HUMAN RecName: Full=Unconventional myosin-Ia; AltName: Full=Brush border myosin I; Short=BBM-I; Short=BBMI; AltName: Full=Myosin I heavy chain; Short=MIHC

Known Diseases associated with this Protein:
DEAFNESS, AUTOSOMAL DOMINANT 48
DEAFNESS, AUTOSOMAL DOMINANT, 48 (DFNA48)

9

7

5

2

9

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Swiss-Prot Protein: Q9UBC5

Identical to: NP_005370

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MYSc_type_VI	cd01382	2.7e-90	5	696
MYSc_type_XI	cd01384	2.3e-181	8	697
MYSc_type_XV	cd01387	1.7e-163	8	694
MYSc	cd00124	5.1e-276	9	693
MYSc_type_II	cd01377	4.5e-168	9	693
MYSc_type_I	cd01378		9	693
MYSc_type_III	cd01379	8.5e-57	9	796
MYSc_type_VIII	cd01383	1.6e-136	9	693
MYSc_type_XVIII	cd01386	1.7e-12	9	693
MYSc_type_V	cd01380	1.8e-159	9	693
MYSc_type_VII	cd01381	4.8e-207	9	693
Motor_domain	cd01363	7.8e-18	44	591
COG5022	COG5022	3e-60	1	1043
Myosin_head	pfam00063		10	681
IQ	pfam00612	3.7e-06	744	764
MYSc	smart00242		3	694
IQ	smart00015	0.00015	696	718
IQ	smart00015	1.6e-07	742	764
Myosin_TH1	pfam06017	4.5e-71	846	1043

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_050208	Polymorphism	p.CYS506SER	N/A
dbSNP	rs76394585	Polymorphism	p.GLU1009ALA	N/A
Swiss-Prot	VAR_015947	Disease	p.GLU385ASP	Deafness, autosomal dominant, 48 (DFNA48)
Swiss-Prot	VAR_015949	Disease	p.GLY674ASP	Deafness, autosomal dominant, 48 (DFNA48)
Swiss-Prot	VAR_015948	Polymorphism	p.GLY662GLU	N/A
Swiss-Prot	VAR_020320	Polymorphism	p.PHE600LEU	N/A
Swiss-Prot	VAR_050207	Polymorphism	p.PRO426LEU	N/A
Swiss-Prot	VAR_015950	Disease	p.SER797PHE	Deafness, autosomal dominant, 48 (DFNA48)
Swiss-Prot	VAR_015951	Disease	p.SER910PRO	Deafness, autosomal dominant, 48 (DFNA48)
dbSNP	rs17119344	Polymorphism	p.THR996ILE	N/A
Swiss-Prot	VAR_015946	Polymorphism	p.VAL306MET	N/A
OMIM	601478.0001	Disease	p.ARG93TER	DEAFNESS, AUTOSOMAL DOMINANT 48
OMIM	601478.0004	Disease	p.GLU385ASP	DEAFNESS, AUTOSOMAL DOMINANT 48
OMIM	601478.0005	Disease	p.GLY662GLU	DEAFNESS, AUTOSOMAL DOMINANT 48
OMIM	601478.0006	Disease	p.SER910PRO	DEAFNESS, AUTOSOMAL DOMINANT 48
OMIM	601478.0003	Disease	p.VAL306MET	DEAFNESS, AUTOSOMAL DOMINANT 48

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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