UniProtKB/Swiss-Prot P56715: Variant p.Arg872His

Oxygen-regulated protein 1
Gene: RP1
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Variant information Variant position:

872 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Histidine (H) at position 872 (R872H, p.Arg872His). 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 (H) 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
Other resources:

Links to websites of interest for the variant.

Variant rs444772 [ dbSNP | Ensembl ]

Sequence information Variant position:

872 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:

KKSLVSKVTDSHITLKSQKK R KGDKVKASAILSKQHATTRA 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                         KKSLVSKVTDSHITLKSQKKRKGDKVKASAILSKQHATTRA

                              KKNLVSKVNNSHITLKTQKKQKGDKLKSSTTVSKQQVTTRA

Mouse                         KKSLVPKVNDLHIMLRNQKKQMGVKLKSGAEVSEQHVTTRA

Bovine                        KRSLVSKVNNSHITLRSQKKQKRDKLKSDTTVSKEHVTTRA

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
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; A novel missense RP1 mutation in retinitis pigmentosa.
Chiang S.W.; Wang D.Y.; Chan W.M.; Tam P.O.; Chong K.K.; Lam D.S.; Pang C.P.;
Eye 20:602-605(2006)
Cited for: VARIANT RP1 GLY-984; VARIANTS TRP-727 AND HIS-872; 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.