Sequence information
Variant position: 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 105 The length of the canonical sequence.
Location on the sequence:
EKGGKHKTGPNLHGLFGRKT
G QAPGYSYTAANKNKGIIWGE
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 EKGGKHKTGPNLHGLFGRKTG QAPGYSYTAANKNKG---IIWGE
Gorilla EKGGKHKTGPNLHGLFGRKTG QAPGYSYTAANKNKG---II
Rhesus macaque EKGGKHKTGPNLHGLFGRKTG QAPGYSYTAANKNKG---IT
Chimpanzee EKGGKHKTGPNLHGLFGRKTG QAPGYSYTAANKNKG---II
Mouse EKGGKHKTGPNLHGLFGRKTG QAAGFSYTDANKNKG---IT
Rat EKGGKHKTGPNLHGLFGRKTG QAAGFSYTDANKNKG---IT
Pig EKGGKHKTGPNLHGLFGRKTG QAPGFSYTDANKNKG---IT
Bovine EKGGKHKTGPNLHGLFGRKTG QAPGFSYTDANKNKG---IT
Rabbit EKGGKHKTGPNLHGLFGRKTG QAVGFSYTDANKNKG---IT
Sheep EKGGKHKTGPNLHGLFGRKTG QAPGFSYTDANKNKG---IT
Horse EKGGKHKTGPNLHGLFGRKTG QAPGFTYTDANKNKG---IT
Chicken EKGGKHKTGPNLHGLFGRKTG QAEGFSYTDANKNKG---IT
Zebrafish ENGGKHKVGPNLWGLFGRKTG QAEGFSYTDANKSKG---IV
Slime mold ANGAPNKQGPNLYGLFFPKSR SFPGYAYSDPNKNTGKFCIM
Fission yeast EKGGANKVGPNLHGVFGRKTG QAEGFSYTEANRDKG---IT
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
2 – 105
Cytochrome c
Modified residue
49 – 49
Phosphotyrosine
Modified residue
56 – 56
N6-succinyllysine
Beta strand
39 – 42
Literature citations
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
Morison I.M.; Cramer Borde E.M.C.; Cheesman E.J.; Cheong P.L.; Holyoake A.J.; Fichelson S.; Weeks R.J.; Lo A.; Davies S.M.K.; Wilbanks S.M.; Fagerlund R.D.; Ludgate M.W.; da Silva Tatley F.M.; Coker M.S.A.; Bockett N.A.; Hughes G.; Pippig D.A.; Smith M.P.; Capron C.; Ledgerwood E.C.;
Nat. Genet. 40:387-389(2008)
Cited for: VARIANT THC4 SER-42; IDENTIFICATION BY MASS SPECTROMETRY; CHARACTERIZATION OF VARIANT THC4 SER-42; X-RAY CRYSTALLOGRAPHY (2.75 ANGSTROMS) OF VARIANT THC4 SER-42 AND WILD TYPE;
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.