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UniProtKB/Swiss-Prot P51160: Variant p.Tyr323Asn

Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
Gene: PDE6C
Variant information

Variant position:  323
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Tyrosine (Y) to Asparagine (N) at position 323 (Y323N, p.Tyr323Asn).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and aromatic (Y) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Achromatopsia 5 (ACHM5) [MIM:613093]: A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. {ECO:0000269|PubMed:19615668, ECO:0000269|PubMed:21127010, ECO:0000269|PubMed:28583373}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In ACHM5; decreases cGMP phosphodiesterase activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   PYKGPKTPDGREVNFYKIID  Y ILHGKEEIKVIPTPPADHWT
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                         PYKGPKTPDGREVNFYKIIDYILHGKEEIKVIPTPPADHWT

Mouse                         PYKGPKTPDGREIIFYKIIDYILHGKEEINVIPSPPADHWT

Bovine                        PYKGPKTPDGREVIFYKIIDYILHGKEEIKVIPTPPMDHWT

Chicken                       PYKGPKTPDGREVNFYKIIDYILHGKEEIKVIPTPPADHWC

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.

TypePositionsDescription
Chain 1 – 855 Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
Domain 256 – 433 GAF 2


Literature citations

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;

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.