Variant position: 338 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 414 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 CLRPLYIDFKRDLGWKWIHE PKGYNANFCAGACPYLWSSDT
Mouse CLRPLYIDFKRDLGWKWIHE PKGYNANFCAGACPYLWSSDT
Rat CLRPLYIDFKRDLGWKWIHE PKGYNANFCAGACPYLWSSDT
Pig CLRPLYIDFKRDLGWKWIHE PKGYNANFCAGACPYLWSSDT
Bovine CLRPLYIDFKRDLGWKWIHE PKGYNANFCAGACPYLWSSDT
Chicken CLRPLYIDFKRDLGWKWIHE PKGYHANFCAGACPYLWSSDT
Xenopus laevis CLRPLYIDFKKDLGWKWIHE PKGYNANFCAGACPYLWSSDT
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
303 – 414 Transforming growth factor beta-2
317 – 380
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Lindsay M.E.; Schepers D.; Bolar N.A.; Doyle J.J.; Gallo E.; Fert-Bober J.; Kempers M.J.; Fishman E.K.; Chen Y.; Myers L.; Bjeda D.; Oswald G.; Elias A.F.; Levy H.P.; Anderlid B.M.; Yang M.H.; Bongers E.M.; Timmermans J.; Braverman A.C.; Canham N.; Mortier G.R.; Brunner H.G.; Byers P.H.; Van Eyk J.; Van Laer L.; Dietz H.C.; Loeys B.L.;
Nat. Genet. 44:922-927(2012)
Cited for: VARIANTS LDS4 100-ALA--TYR-104 DEL; TRP-299; CYS-302 AND HIS-338; FUNCTION;
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.