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UniProtKB/Swiss-Prot P56715: Variant p.Ala1670Thr

Oxygen-regulated protein 1
Gene: RP1
Chromosomal location: 8q11-q13
Variant information

Variant position:  1670
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Alanine (A) to Threonine (T) at position 1670 (A1670T, p.Ala1670Thr).
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 small size and hydrophobic (A) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Polymorphism:  Tyr-985 is associated with susceptibility to hypertriglyceridemia [MIM:145750] in the homozygous state.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  1670
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2156
The length of the canonical sequence.

Location on the sequence:   STRKSQVCPYNSVEFQCSRK  A SLYDSEGQSFGSSEQVSSSS
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                         STRKSQVCPYNSVEFQCSRKASLYDSEGQSFGSSEQVSSSS

                              SIHRSQVCPYNSVEFQCARKVDLYDCEGQSFGSSEQLSSNS

Mouse                         SIHKSQVCPYNSVEVQCAKKTNFYESECQSLVSSEQVSRSS

Bovine                        IYTHISGLSCDSVEFQGTGKVGLYDPEGQSLGSLERVSSNS

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 – 2156 Oxygen-regulated protein 1


Literature citations

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
Sullivan L.S.; Heckenlively J.R.; Bowne S.J.; Zuo J.; Hide W.A.; Gal A.; Denton M.; Inglehearn C.F.; Blanton S.H.; Daiger S.P.;
Nat. Genet. 22:255-259(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS HIS-872; TYR-985; THR-1670; PRO-1691 AND TYR-2033;

RP1 protein truncating mutations predominate at the RP1 adRP locus.
Payne A.; Vithana E.; Khaliq S.; Hameed A.; Deller J.; Abu-Safieh L.; Kermani S.; Leroy B.P.; Mehdi S.Q.; Moore A.T.; Bird A.C.; Bhattacharya S.S.;
Invest. Ophthalmol. Vis. Sci. 41:4069-4073(2000)
Cited for: VARIANTS RP1 ILE-373; ASN-663; ASN-900 AND ASN-2113; VARIANTS HIS-872; TYR-985; GLN-1595; THR-1670; PRO-1691 AND SER-1793;

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
Berson E.L.; Grimsby J.L.; Adams S.M.; McGee T.L.; Sweklo E.; Pierce E.A.; Sandberg M.A.; Dryja T.P.;
Invest. Ophthalmol. Vis. Sci. 42:2217-2224(2001)
Cited for: VARIANTS GLY-168; THR-218; ILE-373; LEU-376; HIS-872; TYR-985; GLY-1072; SER-1356; PRO-1417; PRO-1425; THR-1670; PRO-1691; SER-1793; LEU-1935; TYR-2033 AND ASN-2066;

Differential pattern of RP1 mutations in retinitis pigmentosa.
Zhang X.; Chen L.J.; Law J.P.; Lai T.Y.; Chiang S.W.; Tam P.O.; Chu K.Y.; Wang N.; Zhang M.; Pang C.P.;
Mol. Vis. 16:1353-1360(2010)
Cited for: VARIANTS RP1 GLU-1370 AND LEU-1652; VARIANTS LEU-408; ARG-706; HIS-872; TYR-985; THR-1670; PRO-1691 AND TYR-2033;

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.