UniProtKB/Swiss-Prot P78363: Variant p.Ser206Arg

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

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

US 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 Serine (S) to Arginine (R) at position 206 (S206R, p.Ser206Arg). 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 polar (S) to large size and basic (R) 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:

In STGD1; uncertain significance; reduced basal and retinal-stimulated ATP-hydrolysis. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs61748536 [ dbSNP | Ensembl ]

Sequence information Variant position:

206 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:

VRPEQFAHGVPDLALKDIAC S EALLERFIIFSQRRGAKTVR 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                         VRPEQ-FAHGVPDLALKDIACSEALLERFIIFSQRRGAKTVR

Mouse                         VRVEQ-FAYGVPDLELTDIACSEALLQRFIIFSQRRGAQTV

Bovine                        VRPEQ-FARGVPDLMLKDIACSEALLERFLIFPQRRAAQTV

Slime mold                    -RPASGFAF--------DIAHTKQLL---------------

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 – 2273	Retinal-specific phospholipid-transporting ATPase ABCA4
Topological domain	43 – 646	Extracellular
Disulfide bond	75 – 324

Literature citations
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
Fishman G.A.; Stone E.M.; Grover S.; Derlacki D.J.; Haines H.L.; Hockey R.R.;
Arch. Ophthalmol. 117:504-510(1999)
Cited for: VARIANTS STGD1 VAL-60; ARG-206; ASN-300; PRO-541; ALA-849; PRO-974; VAL-1038; CYS-1108; LEU-1408; ARG-1488; ASP-1652; PRO-1729; GLU-1961; TRP-2038; TRP-2077; HIS-2107; ARG-2128 AND TYR-2150; Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
Paloma E.; Martinez-Mir A.; Vilageliu L.; Gonzalez-Duarte R.; Balcells S.;
Hum. Mutat. 17:504-510(2001)
Cited for: VARIANTS STGD1 SER-686; TRP-1055; CYS-1108; ASP-1799; ASP-1805 AND PRO-1940; VARIANTS FFM MET-1253 AND PRO-1940; VARIANTS CORD3 CYS-212 AND ARG-2060; VARIANTS GLN-943; LEU-1948 AND ILE-2255; Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
Riveiro-Alvarez R.; Aguirre-Lamban J.; Lopez-Martinez M.A.; Trujillo-Tiebas M.J.; Cantalapiedra D.; Vallespin E.; Avila-Fernandez A.; Ramos C.; Ayuso C.;
Br. J. Ophthalmol. 93:1359-1364(2009)
Cited for: VARIANTS STGD1 VAL-156; CYS-212; LYS-380; ARG-550; PRO-572; TRP-602; ARG-607; CYS-653; ASP-767; ILE-897; ALA-901; MET-931; SER-965; MET-1019; HIS-1108; LEU-1129; LEU-1380; ILE-1433; LEU-1486; TYR-1490; GLN-1640; TRP-1640; ARG-1748; ASP-1799; PRO-1940; GLU-1961; SER-1977; PHE-2027; ARG-2060; HIS-2107; TYR-2150 AND VAL-2241; Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R.; Lopez-Martinez M.A.; Zernant J.; Aguirre-Lamban J.; Cantalapiedra D.; Avila-Fernandez A.; Gimenez A.; Lopez-Molina M.I.; Garcia-Sandoval B.; Blanco-Kelly F.; Corton M.; Tatu S.; Fernandez-San Jose P.; Trujillo-Tiebas M.J.; Ramos C.; Allikmets R.; Ayuso C.;
Ophthalmology 120:2332-2337(2013)
Cited for: VARIANTS STGD1 TRP-18; LEU-153; CYS-212; ALA-291; CYS-537; PRO-541; TRP-602; PRO-611; CYS-653; SER-686; GLU-762; MET-931; ALA-989; MET-1019; ARG-1094; LEU-1096; CYS-1098; HIS-1108; LYS-1122; GLU-1127; LEU-1129; THR-1357; LEU-1380; LEU-1486; MET-1526; ASP-1598; GLN-1640; CYS-1724; ASP-1799; ASP-1805; ASP-1838; ASP-1844; PRO-1940; ARG-1961; GLU-1961; SER-1977; ASN-2047; ARG-2060; GLN-2077; TYR-2137; TYR-2150 AND SER-2188; REVIEW;

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.