Results for the protein: Q7Z406

Results for the Protein: Q7Z406

327478526

79784

MYH14

NCBI, UniProt

MYH14_HUMAN RecName: Full=Myosin-14; AltName: Full=Myosin heavy chain 14; AltName: Full=Myosin heavy chain, non-muscle IIc; AltName: Full=Non-muscle myosin heavy chain IIc; Short=NMHC II-C

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 4
  DEAFNESS, AUTOSOMAL DOMINANT, 4A (DFNA4A)
  PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
  PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (PNMHH)

11

6

6

2

9

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Swiss-Prot Protein: Q7Z406

Identical to: NP_079005

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MYSc_type_VIII	cd01383	1.5e-159	100	799
MYSc_type_II	cd01377		101	799
MYSc_type_VI	cd01382	1e-95	102	802
MYSc_type_XV	cd01387	7.6e-156	105	799
MYSc_type_XI	cd01384	1.6e-195	105	804
MYSc	cd00124	4.1e-280	106	799
MYSc_type_V	cd01380	3.1e-210	106	799
MYSc_type_VII	cd01381	1.5e-188	106	799
MYSc_type_III	cd01379	5.1e-71	106	822
MYSc_type_XVIII	cd01386	1.5e-39	106	799
MYSc_type_I	cd01378	1.2e-183	108	799
Motor_domain	cd01363	1e-102	141	698
COG5022	COG5022	2.7e-304	35	1598
Myosin_N	pfam02736	1.4e-06	53	95
Myosin_head	pfam00063		107	788
IQ	pfam00612	0.0002	804	824
Myosin_tail_1	pfam01576	1.9e-181	1090	1947
MYSc	smart00242		100	800
IQ	smart00015	1.8e-05	802	824

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11669191	Polymorphism	p.ALA1209GLU	N/A
Swiss-Prot	VAR_066339	Polymorphism	p.ALA1154VAL	N/A
Swiss-Prot	VAR_066338	Disease	p.ARG933LEU	Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH)
Swiss-Prot	VAR_022868	Disease	p.ARG726SER	Deafness, autosomal dominant, 4A (DFNA4A)
Swiss-Prot	VAR_022870	Polymorphism	p.ASN1559SER	N/A
Swiss-Prot	VAR_022867	Disease	p.GLY376CYS	Deafness, autosomal dominant, 4A (DFNA4A)
Swiss-Prot	VAR_022866	Polymorphism	p.ILE266VAL	N/A
Swiss-Prot	VAR_022869	Disease	p.LEU976PHE	Deafness, autosomal dominant, 4A (DFNA4A)
dbSNP	rs34498817	Polymorphism	p.PRO334ALA	N/A
Swiss-Prot	VAR_037302	Disease	p.SER120LEU	Deafness, autosomal dominant, 4A (DFNA4A)
Swiss-Prot	VAR_056178	Polymorphism	p.VAL1540ILE	N/A
OMIM	608568.0006	Disease	p.ARG900LEU	PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
OMIM	608568.0003	Disease	p.ARG685SER	DEAFNESS, AUTOSOMAL DOMINANT 4
OMIM	608568.0004	Disease	p.GLY368CYS	DEAFNESS, AUTOSOMAL DOMINANT 4
OMIM	608568.0002	Disease	p.LEU935PHE	DEAFNESS, AUTOSOMAL DOMINANT 4
OMIM	608568.0005	Disease	p.SER120LEU	DEAFNESS, AUTOSOMAL DOMINANT 4
OMIM	608568.0001	Disease	p.SER7TER	DEAFNESS, AUTOSOMAL DOMINANT 4

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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