Variant position: 458 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 500 The length of the canonical sequence.
Location on the sequence:
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 VSAMQHQTVLELTETGVEAA AASAISVARTLLVFEVQQPFL
Mouse VSAMKHETVLELTESGVEAA AASAISFGRSLPIFEVQRPFL
Rat VSSMKHETVLELTETGVEAA AASTISVARNLLIFEVQQPFL
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 II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.
Levy N.J.; Ramesh N.; Cicardi M.; Harrison R.A.; Davis A.E. III;
Proc. Natl. Acad. Sci. U.S.A. 87:265-268(1990)
Cited for: VARIANT HAE THR-458;
C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.
Davis A.E. III; Aulak K.; Parad R.B.; Stecklein H.P.; Eldering E.; Hack C.E.; Kramer J.; Strunk R.C.; Bissler J.; Rosen F.S.;
Nat. Genet. 1:354-358(1992)
Cited for: VARIANTS HAE GLU-454 AND THR-458;
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
Bafunno V.; Bova M.; Loffredo S.; Divella C.; Petraroli A.; Marone G.; Montinaro V.; Margaglione M.; Triggiani M.;
Ann. Hum. Genet. 78:73-82(2014)
Cited for: VARIANTS HAE ARG-11; ARG-265; VAL-274; THR-458; CYS-466; HIS-466; ARG-493 AND GLU-493;
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