UniProtKB/SwissProt variant VAR

Transient receptor potential cation channel subfamily M member 1
Gene: TRPM1
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Variant information Variant position:

364
Type of variant:

LP/P [Disclaimer]
Residue change:

From Leucine (L) to Arginine (R) at position 364 (L364R, p.Leu364Arg).
Physico-chemical properties:

Change from medium size and hydrophobic (L) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In CSNB1C.
Other resources:

Variant rs372608320 [ dbSNP | Ensembl ]

Sequence information Variant position:

364
Protein sequence length:

1603
Location on the sequence:

VFRMGSEGQQDIEMAILTAL L KGTNVSAPDQLSLALAWNRV
Residue conservation:

Human                         VFRMGSEGQQDIEMAILTALLKGTNVSAPDQLSLALAWNRV

Mouse                         VFRMGSEGQQDVEMAILTALLKGTNASAPDQLSLALAWNRV

Rat                           VFRMGSEGQQDVEMAILTALLKGTNVSAPDQLSLALAWNRV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1603	Transient receptor potential cation channel subfamily M member 1
Topological domain	1 – 830	Cytoplasmic
Alternative sequence	137 – 1603	Missing. In isoform 7.
Alternative sequence	301 – 1603	Missing. In isoform 4.

Literature citations
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
van Genderen M.M.; Bijveld M.M.; Claassen Y.B.; Florijn R.J.; Pearring J.N.; Meire F.M.; McCall M.A.; Riemslag F.C.; Gregg R.G.; Bergen A.A.; Kamermans M.;
Am. J. Hum. Genet. 85:730-736(2009)
Cited for: FUNCTION; TISSUE SPECIFICITY; VARIANTS CSNB1C CYS-74; PRO-99; ARG-364; ARG-534 AND HIS-611;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q7Z4N2: Variant p.Leu364Arg