Results for the protein: Q9HBA0

Results for the Protein: Q9HBA0

62901470

59341

TRPV4

NCBI, UniProt

TRPV4_HUMAN RecName: Full=Transient receptor potential cation channel subfamily V member 4; Short=TrpV4; AltName: Full=Osm-9-like TRP channel 4; Short=OTRPC4; AltName: Full=Transient receptor potential protein 12; Short=TRP12; AltName: Full=Vanilloid receptor-like channel 2; AltName: Full=Vanilloid receptor-like protein 2; Short=VRL-2; AltName: Full=Vanilloid receptor-related osmotically-activated channel; Short=VR-OAC

Known Diseases associated with this Protein:
  BRACHYOLMIA 3 (BRAC3)
  BRACHYOLMIA TYPE 3
  CHARCOT-MARIE-TOOTH DISEASE 2C (CMT2C)
  DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
  DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (FDAB)
  DISTAL SPINAL MUSCULAR ATROPHY, CONGENITAL NON-PROGRESSIVE (DSMAC)
  HEREDIT
  HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
  HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCLUDED
  METATROPIC DYSP
  METATROPIC DYSPLASIA
  METATROPIC DYSPLASIA (MTD)
  PARASTREMMATIC DWARFISM, INCLUDED
  SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (SPSMA)
  SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED
  SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED;;
  SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
  SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE
  SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED
  SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED;
  SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
  SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED
  SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED;;
  SPONDYLOMETAPHYSEAL DYSPLASIA KOZLOWSKI TYPE (SMDK)
  SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

70

3

31

1

41

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Default View: ANK - cd00204 ANK - smart00248 Ank - pfam00023 Ion_trans - pfam00520	Swiss-Prot Protein: Q9HBA0 Identical to: NP_067638 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ank	pfam00023	4e-07	237	269
Ion_trans	pfam00520	1.6e-05	514	718
ANK	smart00248	0.00033	237	266

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_062334	Disease	p.ALA716SER	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_067990	Disease	p.ARG232CYS	Distal spinal muscular atrophy, congenital non-progressive (DSMAC)
Swiss-Prot	VAR_063528	Disease	p.ARG269CYS	Charcot-Marie-Tooth disease 2C (CMT2C)
Swiss-Prot	VAR_063530	Disease	p.ARG316CYS	Scapuloperoneal spinal muscular atrophy (SPSMA)
Swiss-Prot	VAR_054805	Disease	p.ARG616GLN	Brachyolmia 3 (BRAC3)
Swiss-Prot	VAR_063529	Disease	p.ARG269HIS	Distal spinal muscular atrophy, congenital non-progressive (DSMAC)
Swiss-Prot	VAR_067991	Disease	p.ARG316HIS	Charcot-Marie-Tooth disease 2C (CMT2C)
Swiss-Prot	VAR_062333	Disease	p.ARG594HIS	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_064535	Disease	p.ARG775LYS	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_068499	Disease	p.ARG271PRO	Digital arthropathy-brachydactyly, familial (FDAB)
Swiss-Prot	VAR_063541	Disease	p.ARG315TRP	Charcot-Marie-Tooth disease 2C (CMT2C)
Swiss-Prot	VAR_062332	Disease	p.ASP333GLY	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_064536	Disease	p.CYS777TYR	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_064518	Polymorphism	p.GLU183LYS	N/A
Swiss-Prot	VAR_064521	Disease	p.GLU278LYS	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_064537	Disease	p.GLU797LYS	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_064528	Disease	p.GLY600TRP	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_068498	Disease	p.GLY270VAL	Digital arthropathy-brachydactyly, familial (FDAB)
Swiss-Prot	VAR_064530	Disease	p.ILE604MET	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_062331	Disease	p.ILE331PHE	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064523	Disease	p.ILE331THR	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064534	Disease	p.LEU709MET	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_064520	Disease	p.LEU199PHE	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064527	Disease	p.LEU596PRO	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_064532	Disease	p.LEU618PRO	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064519	Disease	p.LYS197ARG	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064533	Disease	p.MET625ILE	Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Swiss-Prot	VAR_068500	Disease	p.PHE273LEU	Digital arthropathy-brachydactyly, familial (FDAB)
Swiss-Prot	VAR_064526	Disease	p.PHE592LEU	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064531	Disease	p.PHE617LEU	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064538	Disease	p.PRO799ALA	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064539	Disease	p.PRO799ARG	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_067989	Disease	p.PRO97ARG	Distal spinal muscular atrophy, congenital non-progressive (DSMAC)
Swiss-Prot	VAR_062335	Disease	p.PRO799LEU	Metatropic dysplasia (MTD)
dbSNP	rs3742030	Polymorphism	p.PRO19SER	N/A
Swiss-Prot	VAR_064540	Disease	p.PRO799SER	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_067993	Disease	p.SER542TYR	Charcot-Marie-Tooth disease 2C (CMT2C)
Swiss-Prot	VAR_064522	Disease	p.THR295ALA	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064517	Disease	p.THR89ILE	Metatropic dysplasia (MTD)
Swiss-Prot	VAR_064529	Polymorphism	p.TYR602CYS	N/A
Swiss-Prot	VAR_054806	Disease	p.VAL620ILE	Brachyolmia 3 (BRAC3)
Swiss-Prot	VAR_064524	Disease	p.VAL342PHE	Metatropic dysplasia (MTD)
OMIM	605427.0005	Disease	p.ALA716SER	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
OMIM	605427.0025	Disease	p.ARG232CYS	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC\|\|SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED
OMIM	605427.0011	Disease	p.ARG269CYS	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC\|\|SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED;
OMIM	605427.0010	Disease	p.ARG316CYS	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC\|\|SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED
OMIM	605427.0033	Disease	p.ARG186GLN	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
OMIM	605427.0001	Disease	p.ARG616GLN	BRACHYOLMIA TYPE 3
OMIM	605427.0009	Disease	p.ARG269HIS	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE\|\|HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCLUDED
OMIM	605427.0026	Disease	p.ARG316HIS	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
OMIM	605427.0003	Disease	p.ARG594HIS	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE\|\|PARASTREMMATIC DWARFISM, INCLUDED
OMIM	605427.0031	Disease	p.ARG271PRO	DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
OMIM	605427.0008	Disease	p.ARG315TRP	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE\|\|SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED;;\|\|HEREDIT
OMIM	605427.0004	Disease	p.ASP333GLY	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
OMIM	605427.0020	Disease	p.GLU183LYS	SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
OMIM	605427.0017	Disease	p.GLU278LYS	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
OMIM	605427.0018	Disease	p.GLU797LYS	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE\|\|SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED;;\|\|METATROPIC DYSP
OMIM	605427.0027	Disease	p.GLY78TRP	METATROPIC DYSPLASIA
OMIM	605427.0032	Disease	p.GLY270VAL	DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
OMIM	605427.0006	Disease	p.ILE331PHE	METATROPIC DYSPLASIA
OMIM	605427.0024	Disease	p.LYS197ARG	METATROPIC DYSPLASIA
OMIM	605427.0029	Disease	p.LYS276GLU	METATROPIC DYSPLASIA
OMIM	605427.0030	Disease	p.PHE273LEU	DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
OMIM	605427.0013	Disease	p.PRO799ALA	METATROPIC DYSPLASIA
OMIM	605427.0015	Disease	p.PRO799ARG	METATROPIC DYSPLASIA
OMIM	605427.0007	Disease	p.PRO799LEU	METATROPIC DYSPLASIA\|\|SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED
OMIM	605427.0012	Disease	p.PRO19SER	SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
OMIM	605427.0014	Disease	p.PRO799SER	METATROPIC DYSPLASIA
OMIM	605427.0022	Disease	p.SER542TYR	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
OMIM	605427.0028	Disease	p.THR740ILE	METATROPIC DYSPLASIA
OMIM	605427.0023	Disease	p.THR89ILE	METATROPIC DYSPLASIA
OMIM	605427.0021	Disease	p.TYR602CYS	SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
OMIM	605427.0002	Disease	p.VAL620ILE	BRACHYOLMIA TYPE 3

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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