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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P61812: Variant p.Pro338His

Transforming growth factor beta-2 proprotein
Gene: TGFB2
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Variant information Variant position: help 338
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Histidine (H) at position 338 (P338H, p.Pro338His).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to medium size and polar (H)
BLOSUM score: help -2
Variant description: help In LDS4.
Other resources: help


Sequence information Variant position: help 338
Protein sequence length: help 414
Location on the sequence: help CLRPLYIDFKRDLGWKWIHE P KGYNANFCAGACPYLWSSDT
Residue conservation: help 
Human                         CLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDT

Mouse                         CLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDT

Rat                           CLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDT

Pig                           CLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDT

Bovine                        CLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDT

Chicken                       CLRPLYIDFKRDLGWKWIHEPKGYHANFCAGACPYLWSSDT

Xenopus laevis                CLRPLYIDFKKDLGWKWIHEPKGYNANFCAGACPYLWSSDT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 414 Transforming growth factor beta-2 proprotein
Chain 303 – 414 Transforming growth factor beta-2
Disulfide bond 317 – 380



Literature citations
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;
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.