Variant position: 323 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 858 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PYKGPKTPDGREVNFYKIID YILHGKEEIKVIPTPPADHWT
Mouse PYKGPKTPDGREIIFYKIID YILHGKEEINVIPSPPADHWT
Bovine PYKGPKTPDGREVIFYKIID YILHGKEEIKVIPTPPMDHWT
Chicken PYKGPKTPDGREVNFYKIID YILHGKEEIKVIPTPPADHWC
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 855 Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
256 – 433 GAF 2
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Grau T.; Artemyev N.O.; Rosenberg T.; Dollfus H.; Haugen O.H.; Cumhur Sener E.; Jurklies B.; Andreasson S.; Kernstock C.; Larsen M.; Zrenner E.; Wissinger B.; Kohl S.;
Hum. Mol. Genet. 20:719-730(2011)
Cited for: FUNCTION; INVOLVEMENT IN ACHM5; VARIANTS ACHM5 TRP-29; TRP-104; 276-ARG--LEU-858 DEL; ASN-323; LEU-391; LEU-602; LYS-790 AND 819-TYR--LEU-858 DEL; CHARACTERIZATION OF VARIANTS ACHM5 TRP-29; TRP-104; ASN-323; LEU-391; LEU-602 AND LYS-790;
Mechanisms of mutant PDE6 proteins underlying retinal diseases.
Gopalakrishna K.N.; Boyd K.; Artemyev N.O.;
Cell. Signal. 37:74-80(2017)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS ACHM5 TRP-29; TRP-104; ASN-323; LEU-391; VAL-455; LEU-602 AND LYS-790; MUTAGENESIS OF LEU-858;
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Thiadens A.A.; den Hollander A.I.; Roosing S.; Nabuurs S.B.; Zekveld-Vroon R.C.; Collin R.W.; De Baere E.; Koenekoop R.K.; van Schooneveld M.J.; Strom T.M.; van Lith-Verhoeven J.J.; Lotery A.J.; van Moll-Ramirez N.; Leroy B.P.; van den Born L.I.; Hoyng C.B.; Cremers F.P.; Klaver C.C.;
Am. J. Hum. Genet. 85:240-247(2009)
Cited for: INVOLVEMENT IN COD4; INVOLVEMENT IN ACHM5; VARIANT COD4 TRP-29; VARIANTS ACHM5 ASN-323 AND VAL-455;
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.