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UniProtKB/Swiss-Prot O43490: Variant p.Arg373Cys

Prominin-1
Gene: PROM1
Variant information

Variant position:  373
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 Arginine (R) to Cysteine (C) at position 373 (R373C, p.Arg373Cys).
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 basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  Cone-rod dystrophy 12 (CORD12) [MIM:612657]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:18654668}. 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.

Involvement in disease:  Retinal macular dystrophy 2 (MCDR2) [MIM:608051]: A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula. {ECO:0000269|PubMed:18654668}. 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.

Involvement in disease:  Stargardt disease 4 (STGD4) [MIM:603786]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269|PubMed:18654668}. 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 CORD12, STGD4 and MCDR2; affects the interaction with actin.
Any additional useful information about the variant.

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



Sequence information

Variant position:  373
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  865
The length of the canonical sequence.

Location on the sequence:   LDGLVQQGYQSLNDIPDRVQ  R QTTTVVAGIKRVLNSIGSDI
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                         LDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDI

Mouse                         LESLVKRGYTTIDEIPNTIQNQTVDVIKDVKNTLDSISSNI

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 20 – 865 Prominin-1
Topological domain 179 – 433 Extracellular


Literature citations

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
Yang Z.; Chen Y.; Lillo C.; Chien J.; Yu Z.; Michaelides M.; Klein M.; Howes K.A.; Li Y.; Kaminoh Y.; Chen H.; Zhao C.; Chen Y.; Al-Sheikh Y.T.; Karan G.; Corbeil D.; Escher P.; Kamaya S.; Li C.; Johnson S.; Frederick J.M.; Zhao Y.; Wang C.; Cameron D.J.; Huttner W.B.; Schorderet D.F.; Munier F.L.; Moore A.T.; Birch D.G.; Baehr W.; Hunt D.M.; Williams D.S.; Zhang K.;
J. Clin. Invest. 118:2908-2916(2008)
Cited for: INVOLVEMENT IN CORD12; INVOLVEMENT IN STGD4; INVOLVEMENT IN MCDR2; VARIANT CORD12/STGD4/MCDR2 CYS-373; INTERACTION WITH CDHR1 AND ACTIN; CHARACTERIZATION OF VARIANT CORD12/STGD4/MCDR2 CYS-373;

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.