Results for the protein: Q9UM54

Results for the Protein: Q9UM54

122065628

4646

MYO6

NCBI, UniProt

MYO6_HUMAN RecName: Full=Unconventional myosin-VI; AltName: Full=Unconventional myosin-6

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT, 22 (DFNA22)
  DEAFNESS, AUTOSOMAL RECESSIVE, 37 (DFNB37)
  DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY (DFNHCM)

3

0

0

0

3

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: COG5022 - COG5022 MYSc_type_VIII - cd01383 MYSc - smart00242 MYSc_type_IX - cd01385 MYSc_type_VI - cd01382 MYSc_type_XI - cd01384 MYSc_type_XV - cd01387 MYSc_type_XVIII - cd01386 MYSc_type_VII - cd01381 MYSc - cd00124 MYSc_type_V - cd01380 MYSc_type_III - cd01379 Myosin_head - pfam00063 MYSc_type_I - cd01378 MYSc_type_II - cd01377 Motor_domain - cd01363	Swiss-Prot Protein: Q9UM54 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MYSc_type_IX	cd01385	4e-65	53	774
MYSc_type_VI	cd01382		54	771
MYSc_type_XI	cd01384	1.4e-214	57	770
MYSc_type_XV	cd01387	5.3e-154	57	770
MYSc	cd00124		58	770
MYSc_type_V	cd01380	1.2e-170	58	770
MYSc_type_VII	cd01381	2.8e-202	58	770
MYSc_type_III	cd01379	6.5e-47	58	871
MYSc_type_XVIII	cd01386	4.1e-11	58	770
MYSc_type_II	cd01377	6.3e-177	59	770
MYSc_type_I	cd01378	1.1e-174	59	759
Motor_domain	cd01363	2.2e-16	93	671
COG5022	COG5022	2.6e-101	1	1293
Myosin_head	pfam00063	9.8e-297	59	759
MYSc	smart00242		52	771

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_012110	Disease	p.CYS442TYR	Deafness, autosomal dominant, 22 (DFNA22)
Swiss-Prot	VAR_016209	Disease	p.GLU216VAL	Deafness, autosomal recessive, 37 (DFNB37)
Swiss-Prot	VAR_029988	Disease	p.HIS246ARG	Deafness, sensorineural, with hypertrophic cardiomyopathy (DFNHCM)

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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