Variant position: 121 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 269 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 SVSKIVVHKDWNSNQISKGN DIALLKLANPVSLTDKIQLAC
Mouse QVSKLVVHQRWNSQNVGNGY DIALIKLASPVTLSKNIQTAC
Rat QVSKLVVHEKWNAQKLSNGN DIALVKLASPVALTSKIQTAC
Pig KVSKLVVHQDWNSNQLSNGN DIALLKLASPVSLTDKIQLGC
Bovine AVSKSVIHEKWNSNQLAQGN DIALLKLASSVPLTDKIQLGC
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
29 – 269 Chymotrypsin-like elastase family member 2A
29 – 267 Peptidase S1
121 – 121 Charge relay system
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
Esteghamat F.; Broughton J.S.; Smith E.; Cardone R.; Tyagi T.; Guerra M.; Szabo A.; Ugwu N.; Mani M.V.; Azari B.; Kayingo G.; Chung S.; Fathzadeh M.; Weiss E.; Bender J.; Mane S.; Lifton R.P.; Adeniran A.; Nathanson M.H.; Gorelick F.S.; Hwa J.; Sahin-Toth M.; Belfort-DeAguiar R.; Kibbey R.G.; Mani A.;
Nat. Genet. 51:1233-1243(2019)
Cited for: INVOLVEMENT IN AOMS4; FUNCTION; VARIANTS AOMS4 MET-70; MET-85 AND ASN-121; CHARACTERIZATION OF VARIANTS AOMS4 MET-70; MET-85 AND ASN-121; INTERACTION WITH SERPINA1; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
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.