UniProtKB/SwissProt variant VAR

Cyclic nucleotide-gated channel alpha-1
Gene: CNGA1
Feedback?

Variant information Variant position:

28
Type of variant:

LB/B
Residue change:

From Arginine (R) to Glutamine (Q) at position 28 (R28Q, p.Arg28Gln).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score:

1
Other resources:

Variant rs76537883 [ dbSNP | Ensembl ]

Sequence information Variant position:

28
Protein sequence length:

686
Location on the sequence:

TQQSFVTMPNVIVPDIEKEI R RMENGACSSFSEDDDSASTS
Residue conservation:

Human                         TQQSFVTMPNVIVPDIEKEIRRMENGACSSFSED---DDSASTS

                              TWYSFVNIPNVIVPDIEKEIRRMENGARSSFSDDDGDDDSA

Mouse                         TWHSFVNIPNVIVPAIEKEIRRMENGACSSFSD----DDNG

Rat                           TWHSFVNIPNVVVPAIEKEIRRMENGACSSFSD----NDNG

Bovine                        TWHSFVNIPNVVGPDVEKEITRMENGACSSFSGD--DDDSA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 686	Cyclic nucleotide-gated channel alpha-1
Topological domain	1 – 165	Cytoplasmic

Literature citations
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Dryja T.P.; Finn J.T.; Peng Y.-W.; McGee T.L.; Berson E.L.; Yau K.-W.;
Proc. Natl. Acad. Sci. U.S.A. 92:10177-10181(1995)
Cited for: VARIANT RP49 PHE-316; VARIANTS GLN-28 AND ASN-114; FUNCTION; SUBCELLULAR LOCATION;

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 P29973: Variant p.Arg28Gln