UniProtKB/Swiss-Prot P56715: Variant p.Asn985Tyr

Oxygen-regulated protein 1
Gene: RP1
Feedback?

Variant information Variant position:

985 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 Asparagine (N) to Tyrosine (Y) at position 985 (N985Y, p.Asn985Tyr). 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 medium size and polar (N) to large size and aromatic (Y) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2293869 [ dbSNP | Ensembl ]

Sequence information Variant position:

985 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:

SNFVMESNKHITKIAGLTGD N LCKEGDKSFIANDTGEEDLH 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                         SNFVMESNKHITKIAGLTGDNLCKEGDKSFIANDTGE--EDLH

                              NNFARESNKYITKNASLT-ENLGKKVGKFFDKVNSEELSKD

Mouse                         NGFLMESNKSKTKNDNWSGNTNQETGKSLVAKDNGEELNKH

Bovine                        NDSILQSNRHTTKSASLTGDNLGKRVGMSFDKNSSEELIQD

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; Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene.
Fujita Y.; Ezura Y.; Emi M.; Ono S.; Takada D.; Takahashi K.; Uemura K.; Iino Y.; Katayama Y.; Bujo H.; Saito Y.;
J. Hum. Genet. 48:305-308(2003)
Cited for: VARIANT TYR-985; 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.