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UniProtKB/Swiss-Prot P78363: Variant p.Asp2177Asn

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
Variant information

Variant position:  2177
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 Aspartate (D) to Asparagine (N) at position 2177 (D2177N, p.Asp2177Asn).
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 acidic (D) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

Variant description:  May be associated with ARMD2; increased retinal-stimulated ATP hydrolysis.
Any additional useful information about the variant.

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



Sequence information

Variant position:  2177
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2273
The length of the canonical sequence.

Location on the sequence:   LKSKFGDGYIVTMKIKSPKD  D LLPDLNPVEQFFQGNFPGSV
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                         LKSKFGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSV

Mouse                         LKYKFGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSV

Slime mold                    IKDKFGSGYSIEVKFK---KEYLE--NGVELFLQ-SFPSAS

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 – 2273 Retinal-specific phospholipid-transporting ATPase ABCA4
Topological domain 1895 – 2273 Cytoplasmic
Mutagenesis 2180 – 2180 P -> L. Does not affect protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.


Literature citations

Further evidence for an association of ABCR alleles with age-related macular degeneration.
Allikmets R.; Tammur J.; Hutchinson A.; Lewis R.A.; Shroyer N.F.; Dalakishvili K.; Lupski J.R.; Steiner K.; Pauleikhoff D.; Holz F.G.; Weber B.H.F.; Dean M.; Atkinson A.; Gail M.H.; Bernstein P.S.; Singh N.; Peiffer A.; Zabriskie N.A.; Leppert M.; Seddon J.M.; Zhang K.; Sunness J.S.; Udar N.S.; Yelchits S.; Silva-Garcia R.; Small K.W.; Simonelli F.; Testa F.; D'Urso M.; Brancato R.; Rinaldi E.; Ingvast S.; Taube A.; Wadelius C.; Souied E.; Ducroq D.; Kaplan J.; Assink J.J.M.; ten Brink J.B.; de Jong P.T.V.M.; Bergen A.A.B.; Maugeri A.; van Driel M.A.; Hoyng C.B.; Cremers F.P.M.; Paloma E.; Coco R.; Balcells S.; Gonzalez-Duarte R.; Kermani S.; Stanga P.; Bhattacharya S.S.; Bird A.C.;
Am. J. Hum. Genet. 67:487-491(2000)
Cited for: VARIANTS GLU-1961 AND ASN-2177;

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
Rivera A.; White K.; Stoehr H.; Steiner K.; Hemmrich N.; Grimm T.; Jurklies B.; Lorenz B.; Scholl H.P.N.; Apfelstedt-Sylla E.; Weber B.H.F.;
Am. J. Hum. Genet. 67:800-813(2000)
Cited for: VARIANTS STGD1 GLU-60; THR-60; GLU-65; LEU-68; ARG-72; CYS-212; SER-230; SER-247; VAL-328; LYS-471; PRO-541; GLN-572; ARG-607; LYS-635; CYS-653; TYR-764; ARG-765; ALA-901; ILE-959; LYS-1036; VAL-1038; PRO-1063; ASP-1087; CYS-1097; CYS-1108; LEU-1380; LYS-1399; PRO-1430; VAL-1440; HIS-1443; LEU-1486; TYR-1488; MET-1537; PRO-1689; LEU-1705; THR-1733; ARG-1748; PRO-1763; LYS-1885; HIS-1898; GLU-1961; ARG-1975; SER-1977; GLY-2077; TRP-2077 AND VAL-2241; VARIANTS GLN-152; HIS-212; ARG-423; ILE-552; ARG-914; GLN-943; THR-1562; ILE-1868; MET-1921; LEU-1948; PHE-1970; ALA-2059; ASN-2177 AND VAL-2216;

Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.
Guymer R.H.; Heon E.; Lotery A.J.; Munier F.L.; Schorderet D.F.; Baird P.N.; McNeil R.J.; Haines H.L.; Sheffield V.C.; Stone E.M.;
Arch. Ophthalmol. 119:745-751(2001)
Cited for: VARIANTS GLU-1961 AND ASN-2177;

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.