UniProtKB/SwissProt variant VAR

Cyclic nucleotide-gated channel beta-1
Gene: CNGB1
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Variant information Variant position:

993
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Valine (V) at position 993 (G993V, p.Gly993Val).
Physico-chemical properties:

Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score:

-3
Variant description:

In RP45.
Other resources:

Variant rs121918532 [ dbSNP | Ensembl ]

Sequence information Variant position:

993
Protein sequence length:

1251
Location on the sequence:

DMLKRLRSVVYLPNDYVCKK G EIGREMYIIQAGQVQVLGGP
Residue conservation:

Human                         DMLKRLRSVVYLPNDYVCKKGEIGREMYIIQAGQVQVLGGP

Mouse                         DMLKRLRSVVYLPNDYVCKKGEIGREMYIIQAGQVQVLGGP

Rat                           DMLKRLRSVVYLPNDYVCKKGEIGREMYIIQAGQVQVLGGP

Bovine                        DMLKRLRSVVYLPNDYVCKKGEIGREMYIIQAGQVQVLGGP

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1251	Cyclic nucleotide-gated channel beta-1
Topological domain	885 – 1251	Cytoplasmic
Region	968 – 1084	Cyclic nucleotide-binding domain
Alternative sequence	300 – 1251	Missing. In isoform GARP2.
Beta strand	992 – 995

Literature citations
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
Bareil C.; Hamel C.P.; Delague V.; Arnaud B.; Demaille J.; Claustres M.;
Hum. Genet. 108:328-334(2001)
Cited for: VARIANT RP45 VAL-993;

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 Q14028: Variant p.Gly993Val