Results for the protein: Q9HC10

Results for the Protein: Q9HC10

116242695

9381

OTOF

NCBI, UniProt

OTOF_HUMAN RecName: Full=Otoferlin; AltName: Full=Fer-1-like protein 2

Known Diseases associated with this Protein:
AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1 (AUNB1)
DEAFNESS, AUTOSOMAL RECESSIVE, 9 (DFNB9)

11

22

0

7

26

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: C2 - smart00239 FerI - pfam08151 FerB - pfam08150	Swiss-Prot Protein: Q9HC10 Identical to: NP_919224 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FerI	pfam08151	1.6e-46	339	410
C2	smart00239	1.2e-16	418	529
FerB	pfam08150	1.1e-55	842	919
C2	smart00239	2.3e-11	961	1068
C2	smart00239	3.9e-18	1493	1592
C2	smart00239	5.8e-07	1733	1863

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046004	Disease	p.ALA964GLU	Auditory neuropathy, autosomal recessive, 1 (AUNB1)
Swiss-Prot	VAR_032235	Polymorphism	p.ALA1083PRO	N/A
dbSNP	rs1879761	Polymorphism	p.ALA53VAL	N/A
dbSNP	rs13031859	Polymorphism	p.ARG82CYS	N/A
Swiss-Prot	VAR_032236	Polymorphism	p.ARG1157GLN	N/A
Swiss-Prot	VAR_046006	Polymorphism	p.ARG1236GLN	N/A
Swiss-Prot	VAR_032241	Disease	p.ARG1939GLN	Auditory neuropathy, autosomal recessive, 1 (AUNB1)
dbSNP	rs56332208	Polymorphism	p.ARG33GLN	N/A
Swiss-Prot	VAR_028030	Polymorphism	p.ARG1680HIS	N/A
Swiss-Prot	VAR_032232	Disease	p.ARG794HIS	Deafness, autosomal recessive, 9 (DFNB9)
Swiss-Prot	VAR_032231	Polymorphism	p.ARG773SER	N/A
dbSNP	rs61744348	Polymorphism	p.ARG169TRP	N/A
Swiss-Prot	VAR_028028	Polymorphism	p.ARG818TRP	N/A
Swiss-Prot	VAR_032233	Polymorphism	p.ARG822TRP	N/A
dbSNP	rs61740776	Polymorphism	p.ASN1203SER	N/A
Swiss-Prot	VAR_032237	Polymorphism	p.ASP1322GLU	N/A
Swiss-Prot	VAR_046003	Disease	p.GLN255HIS	Auditory neuropathy, autosomal recessive, 1 (AUNB1)
Swiss-Prot	VAR_035895	Polymorphism	p.GLU1323LYS	N/A
dbSNP	rs61739883	Polymorphism	p.GLU801VAL	N/A
Swiss-Prot	VAR_032240	Polymorphism	p.GLY1888ASP	N/A
Swiss-Prot	VAR_032229	Disease	p.ILE515THR	Deafness, autosomal recessive, 9 (DFNB9)
Swiss-Prot	VAR_035896	Polymorphism	p.ILE1547VAL	N/A
Swiss-Prot	VAR_032234	Disease	p.LEU1011PRO	Deafness, autosomal recessive, 9 (DFNB9)
Swiss-Prot	VAR_046005	Disease	p.LEU1138PRO	Auditory neuropathy, autosomal recessive, 1 (AUNB1)
Swiss-Prot	VAR_046008	Disease	p.PHE1795CYS	Auditory neuropathy, autosomal recessive, 1 (AUNB1)
Swiss-Prot	VAR_032239	Disease	p.PRO1825ALA	Deafness, autosomal recessive, 9 (DFNB9)
Swiss-Prot	VAR_032242	Disease	p.PRO1987ARG	Auditory neuropathy, autosomal recessive, 1 (AUNB1)
Swiss-Prot	VAR_032228	Disease	p.PRO490GLN	Deafness, autosomal recessive, 9 (DFNB9)
dbSNP	rs17005371	Polymorphism	p.PRO1646SER	N/A
Swiss-Prot	VAR_046007	Polymorphism	p.THR1688LYS	N/A
Swiss-Prot	VAR_049057	Polymorphism	p.VAL1886ALA	N/A
Swiss-Prot	VAR_032238	Polymorphism	p.VAL1625MET	N/A
Swiss-Prot	VAR_032230	Polymorphism	p.VAL575MET	N/A

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258