UniProtKB/Swiss-Prot P08603: Variant p.Glu936Asp

Complement factor H
Gene: CFH
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Variant information Variant position:

936 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 Glutamate (E) to Aspartate (D) at position 936 (E936D, p.Glu936Asp). 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:

Similar physico-chemical property. Both residues are medium size and acidic. 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
Variant description:

Associated with hemolytic uremic syndrome and basal laminar drusen. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1065489 [ dbSNP | Ensembl ]

Sequence information Variant position:

936 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1231 The length of the canonical sequence.
Location on the sequence:

YMGKWSSPPQCEGLPCKSPP E ISHGVVAHMSDSYQYGEEVT 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                         YMGKWSSPPQCEGLPCKSPPEISHGVVAHMSDSYQYGEEVT

Mouse                         YMGKWSTPPRCVGLPCGPPPSIPLGTVSLELESYQHGEEVT

Bovine                        HMGKWSSPPQCVGLPCGLPPYVQNGVVSHKKDRYQYGEEVT

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	19 – 1231	Complement factor H
Domain	929 – 986	Sushi 16
Disulfide bond	931 – 973
Alternative sequence	450 – 1231	Missing. In isoform 2.

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-62; THR-551; ILE-890; ASP-936; ILE-1007; ILE-1017; TYR-1050 AND THR-1059; Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.
Caprioli J.; Castelletti F.; Bucchioni S.; Bettinaglio P.; Bresin E.; Pianetti G.; Gamba S.; Brioschi S.; Daina E.; Remuzzi G.; Noris M.;
Hum. Mol. Genet. 12:3385-3395(2003)
Cited for: VARIANTS AHUS1 GLY-78; HIS-950; HIS-951; TRP-1163 AND ALA-1198; VARIANT ASP-936; Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
Boon C.J.F.; Klevering B.J.; Hoyng C.B.; Zonneveld-Vrieling M.N.; Nabuurs S.B.; Blokland E.; Cremers F.P.M.; den Hollander A.I.;
Am. J. Hum. Genet. 82:516-523(2008)
Cited for: INVOLVEMENT IN BASAL LAMINAR DRUSEN; VARIANTS HIS-402; GLY-567; ASP-936; TYR-1050 AND SER-1078; Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Maga T.K.; Nishimura C.J.; Weaver A.E.; Frees K.L.; Smith R.J.H.;
Hum. Mutat. 31:E1445-E1460(2010)
Cited for: VARIANTS AHUS1 TYR-325; ILE-609; LEU-1169 AND CYS-1183; VARIANT ASP-936;

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.