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UniProtKB/Swiss-Prot Q16281: Variant p.Glu590Lys

Cyclic nucleotide-gated channel alpha-3
Gene: CNGA3
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Variant information Variant position: help 590
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 590 (E590K, p.Glu590Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In ACHM2; also found in patients with cone-rod dystrophy; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration.
Other resources: help


Sequence information Variant position: help 590
Protein sequence length: help 694
Location on the sequence: help SIGYSDLFCLSKDDLMEALT E YPEAKKALEEKGRQILMKDN
Residue conservation: help
Human                         SIGYSDLFCLSKDDLMEALTEYPEAKKALEEKGRQILMKDN

Mouse                         SIGYSDLFCLSKDDLMEALTEYPDAKRALEEKGRQILMKDN

Rat                           SIGYSDLFCLSKDDLMETLTEYPDAKRALEEKGRQILMKDN

Bovine                        SIGYSDLFCLSKDDLMEALTEYPEAKKALEEKGRQILMKDN

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 694 Cyclic nucleotide-gated channel alpha-3
Topological domain 404 – 694 Cytoplasmic
Region 488 – 608 Cyclic nucleotide-binding domain
Binding site 609 – 609



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; Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
Reuter P.; Koeppen K.; Ladewig T.; Kohl S.; Baumann B.; Wissinger B.;
Hum. Mutat. 29:1228-1236(2008)
Cited for: VARIANTS ACHM2 LYS-228; CYS-277; GLN-283; TRP-439; THR-469; LEU-547 AND ARG-557; CHARACTERIZATION OF VARIANTS ACHM2 LYS-228; GLN-283; ARG-291; TRP-439; THR-469; LEU-547; ARG-557 AND LYS-590; Identification of CNGA3 mutations in 46 Families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
Li S.; Huang L.; Xiao X.; Jia X.; Guo X.; Zhang Q.;
JAMA Ophthalmol. 132:1076-1083(2014)
Cited for: VARIANTS ASP-120; LYS-198; ILE-224; MET-247; ARG-258; SER-330; PHE-334; HIS-533; ASN-570 AND HIS-646; VARIANTS ACHM2 CYS-171; TRP-223; GLN-223; ASN-260; LYS-274; HIS-277; CYS-277; PRO-278; TRP-283; SER-322; TRP-436; GLN-436; TRP-439; MET-529; 543-ASP--SER-545 DEL AND LYS-590;
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.