Results for the protein: P13535

Results for the Protein: P13535

3041707

4626

MYH8

NCBI, UniProt

MYH8_HUMAN RecName: Full=Myosin-8; AltName: Full=Myosin heavy chain 8; AltName: Full=Myosin heavy chain, skeletal muscle, perinatal; Short=MyHC-perinatal

Known Diseases associated with this Protein:
  CARNEY COMPLEX VARIANT
  CARNEY COMPLEX VARIANT (CACOV)
  TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, INCLUDED

2

7

1

2

6

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Swiss-Prot Protein: P13535

Identical to: NP_002463

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MYSc_type_IX	cd01385	9.9e-75	82	784
MYSc_type_II	cd01377		84	780
MYSc_type_VI	cd01382	6.2e-89	85	780
MYSc_type_XV	cd01387	1.3e-151	88	780
MYSc_type_XI	cd01384	7e-201	88	784
MYSc	cd00124		89	780
MYSc_type_III	cd01379	4.2e-62	89	803
MYSc_type_VII	cd01381	9.4e-222	89	780
MYSc_type_V	cd01380	2.2e-205	89	780
MYSc_type_XVIII	cd01386	5.4e-15	89	780
MYSc_type_I	cd01378	4.2e-179	90	780
Motor_domain	cd01363		124	678
COG5022	COG5022	9.9e-277	21	1540
Myosin_N	pfam02736	5.2e-16	37	78
Myosin_head	pfam00063		90	769
Myosin_tail_1	pfam01576		1071	1929
MYSc	smart00242		83	781
IQ	smart00015	0.00066	783	805

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34693726	Polymorphism	p.ALA636VAL	N/A
Swiss-Prot	VAR_019810	Disease	p.ARG674GLN	Carney complex variant (CACOV)
Swiss-Prot	VAR_030208	Polymorphism	p.GLU1261GLY	N/A
Swiss-Prot	VAR_030207	Polymorphism	p.GLU924GLY	N/A
Swiss-Prot	VAR_050202	Polymorphism	p.ILE326THR	N/A
Swiss-Prot	VAR_050204	Polymorphism	p.MET1229THR	N/A
Swiss-Prot	VAR_030209	Polymorphism	p.TRP1692ARG	N/A
dbSNP	rs61730805	Polymorphism	p.VAL1575GLY	N/A
OMIM	160741.0001	Disease	p.ARG674GLN	CARNEY COMPLEX VARIANT\|\|TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, INCLUDED

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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