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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16281: Variant p.Pro372Ser

Cyclic nucleotide-gated channel alpha-3
Gene: CNGA3
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Variant information Variant position: help 372
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Serine (S) at position 372 (P372S, p.Pro372Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In ACHM2.
Other resources: help


Sequence information Variant position: help 372
Protein sequence length: help 694
Location on the sequence: help YIYSLYWSTLTLTTIGETPP P VKDEEYLFVVVDFLVGVLIF
Residue conservation: help 
Human                         YIYSLYWSTLTLTTIGETPPPVKDEEYLFVVVDFLVGVLIF

Mouse                         YIYSLYWSTLTLTTIGETPPPVKDEEYLFVVIDFLVGILIF

Rat                           YIYSLYWSTLTLTTIGETPPPVKDEEYLFVVIDFLVGVLIF

Bovine                        YIYSLYWSTLTLTTIGETPPPVKDEEYLFVVIDFLVGVLIF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 694 Cyclic nucleotide-gated channel alpha-3
Transmembrane 348 – 378 Helical; Name=P-helix
Region 298 – 406 Ion conduction pathway
Site 392 – 392 Central gate



Literature citations
CNGA3 mutations in hereditary cone photoreceptor disorders.
Wissinger B.; Gamer D.; Jaegle H.; Giorda R.; Marx T.; Mayer S.; Tippmann S.; Broghammer M.; Jurklies B.; Rosenberg T.; Jacobson S.G.; Sener E.C.; Tatlipinar S.; Hoyng C.B.; Castellan C.; Bitoun P.; Andreasson S.; Rudolph G.; Kellner U.; Lorenz B.; Wolff G.; Verellen-Dumoulin C.; Schwartz M.; Cremers F.P.M.; Apfelstedt-Sylla E.; Zrenner E.; Salati R.; Sharpe L.T.; Kohl S.;
Am. J. Hum. Genet. 69:722-737(2001)
Cited for: VARIANTS ACHM2 VAL-162; LEU-163; CYS-181; TYR-182; PHE-186; TYR-191; LYS-194; TRP-223; ARG-224; ASN-260; ASP-267; CYS-277; HIS-277; TRP-283; GLN-283; ARG-291; ILE-312 DEL; PRO-341; SER-369; SER-372; SER-380; THR-406; TRP-410; CYS-427; TRP-436; SER-471; VAL-485; SER-510; GLU-513; GLU-516; THR-522; ASP-525; MET-529; LEU-547; ARG-557; HIS-563; MET-565; HIS-569; CYS-573 AND LYS-593;
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.