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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16281: Variant p.Tyr263Asp

Cyclic nucleotide-gated channel alpha-3
Gene: CNGA3
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Variant information Variant position: help 263
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tyrosine (Y) to Aspartate (D) at position 263 (Y263D, p.Tyr263Asp).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and acidic (D)
BLOSUM score: help -3
Variant description: help In ACHM2.
Other resources: help


Sequence information Variant position: help 263
Protein sequence length: help 694
Location on the sequence: help YKTTTQFKLDVLSLVPTDLA Y LKVGTNYPEVRFNRLLKFSR
Residue conservation: help
Human                         YKTTTQFKLDVLSLVPTDLAYLKVGTNYPEVRFNRLLKFSR

Mouse                         YTKTLHFKLDILSLIPTDLAYLKLGVNYPELRFNRLLKFSR

Rat                           YTKTLHFKLDILSLIPTDLAYLKLGMNYPELRFNRLLRFSR

Bovine                        YTQTLHFKLDVLSLVPTDLAYFKLGMNYPELRFNRLLKLAR

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 694 Cyclic nucleotide-gated channel alpha-3
Transmembrane 247 – 266 Helical; Name=S3
Helix 263 – 266



Literature citations
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Nishiguchi K.M.; Sandberg M.A.; Gorji N.; Berson E.L.; Dryja T.P.;
Hum. Mutat. 25:248-258(2005)
Cited for: VARIANTS ACHM2 TRP-223; SER-249; ASP-263; CYS-277; PRO-341; PRO-401; TRP-410; CYS-427; TRP-436; MET-529; MET-565 AND LYS-590; VARIANTS LEU-48 AND MET-153;
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.