Variant position: 197 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 267 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 RAHVDALRTHLAPYSDELRQ RLAARLEALKENGGARLAEYH
Gorilla RAHVDALRTHLAPYSDELRQ RLAARLEALKENGGARLAEYH
Rhesus macaque RAHVDALRTHLAPYSDELRQ RLAARLEALKENGGARLAEYH
Chimpanzee RAHVDALRTHLAPYSDELRQ RLAARLEALKENGGARLAEYH
Mouse RTHVDSLRTQLAPHSEQMRE SLAQRLAELKSN--PTLNEYH
Rat RVNADALRAKFGLYSDQMRE NLAQRLTEIKNH--PTLIEYH
Pig RAHVEALRQHVAPYSDDLRQ RMAARFEALKEGGGS-LAEYQ
Bovine RAHVETLRQQLAPYSDDLRQ RLTARLEALKEGGGS-LAEYH
Rabbit RTHVDTLRTKLAPYSNELQQ RLAARLESIKEGGGASLAEYQ
Chicken RGHVEELRKNLAPYSDELRQ KLSQKLEEIREKGIPQASEYQ
Zebrafish ESNIEETKSKVVPMVEAVRT KLTERLEDLRTMAAPYAEEYK
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.
Secondary structure changes in ApoA-I Milano (R173C) are not accompanied by a decrease in protein stability or solubility.
Petrlova J.; Dalla-Riva J.; Morgelin M.; Lindahl M.; Krupinska E.; Stenkula K.G.; Voss J.C.; Lagerstedt J.O.;
PLoS ONE 9:E96150-E96150(2014)
Cited for: CHARACTERIZATION OF VARIANT MILANO CYS-197;
Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I.
Weisgraber K.H.; Rall S.C. Jr.; Bersot T.P.; Mahley R.W.; Franceschini G.; Sirtori C.R.;
J. Biol. Chem. 258:2508-2513(1983)
Cited for: VARIANT MILANO CYS-197;
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.