UniProtKB/Swiss-Prot P07360: Variant p.Asp118Gly

Complement component C8 gamma chain
Gene: C8G
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Variant information Variant position:

118 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 Aspartate (D) to Glycine (G) at position 118 (D118G, p.Asp118Gly). 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 glycine (G) 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
Other resources:

Links to websites of interest for the variant.

Variant rs7850844 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QVRQLYGDTGVLGRFLLQAR D ARGAVHVVVAETDYQSFAVL 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                         QVRQLYGDTGVLGRFLLQARDARGAVHVVVAETDYQSFAVL

Mouse                         QVRQLFENTGVPGRFLFQVSRARGPVHMVVAETDYQSFAIL

Rabbit                        QVSQRYGATGVPGRFLLPARGPRGAVHVVAAETDYHSFAVL

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	21 – 202	Complement component C8 gamma chain
Disulfide bond	96 – 188
Beta strand	117 – 121

Literature citations
The eighth component of human complement: evidence that it is an oligomeric serum protein assembled from products of three different genes.
Ng S.C.; Rao A.G.; Howard O.M.Z.; Sodetz J.M.;
Biochemistry 26:5229-5233(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PARTIAL PROTEIN SEQUENCE; PYROGLUTAMATE FORMATION AT GLN-21; VARIANT GLY-118; Structural homology of human complement component C8 gamma and plasma protein HC: identity of the cysteine bond pattern.
Haefliger J.-A.; Jenne D.E.; Stanley K.K.; Tschopp J.;
Biochem. Biophys. Res. Commun. 149:750-754(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLY-118; Genomic structure of the human complement protein C8 gamma: homology to the lipocalin gene family.
Kaufman K.M.; Sodetz J.M.;
Biochemistry 33:5162-5166(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLY-118; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLY-118; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLY-118 AND ASN-124;

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.