Variant position: 21 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 173 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 MSLLGPKVLLFLAAFIITSD WIPLGVNSQRGDDVTQATPET
Mouse MLFLGQKALLLVLAISIPSD WLPLGVSGQRGDDV----PET
Bovine MTFFGPKVLLLLTALIMSSG RTPLGVSGQRGDDVTTVTSET
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
1 – 21
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Barbier M.; Gross M.S.; Aubart M.; Hanna N.; Kessler K.; Guo D.C.; Tosolini L.; Ho-Tin-Noe B.; Regalado E.; Varret M.; Abifadel M.; Milleron O.; Odent S.; Dupuis-Girod S.; Faivre L.; Edouard T.; Dulac Y.; Busa T.; Gouya L.; Milewicz D.M.; Jondeau G.; Boileau C.;
Am. J. Hum. Genet. 95:736-743(2014)
Cited for: INVOLVEMENT IN AAT9; VARIANT AAT9 LEU-21; CHARACTERIZATION OF VARIANT AAT9 LEU-21;
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.