Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13509: Variant p.Asp417His

Tubulin beta-3 chain
Gene: TUBB3
Feedback?
Variant information Variant position: help 417
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Histidine (H) at position 417 (D417H, p.Asp417His).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (H)
BLOSUM score: help -1
Variant description: help In CFEOM3A; severe phenotype with congenital facial weakness, congenital wrist and finger contractures.
Other resources: help


Sequence information Variant position: help 417
Protein sequence length: help 450
Location on the sequence: help WYTGEGMDEMEFTEAESNMN D LVSEYQQYQDATAEEEGEMY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 450 Tubulin beta-3 chain
Helix 405 – 427



Literature citations
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Tischfield M.A.; Baris H.N.; Wu C.; Rudolph G.; Van Maldergem L.; He W.; Chan W.M.; Andrews C.; Demer J.L.; Robertson R.L.; Mackey D.A.; Ruddle J.B.; Bird T.D.; Gottlob I.; Pieh C.; Traboulsi E.I.; Pomeroy S.L.; Hunter D.G.; Soul J.S.; Newlin A.; Sabol L.J.; Doherty E.J.; de Uzcategui C.E.; de Uzcategui N.; Collins M.L.; Sener E.C.; Wabbels B.; Hellebrand H.; Meitinger T.; de Berardinis T.; Magli A.; Schiavi C.; Pastore-Trossello M.; Koc F.; Wong A.M.; Levin A.V.; Geraghty M.T.; Descartes M.; Flaherty M.; Jamieson R.V.; Moller H.U.; Meuthen I.; Callen D.F.; Kerwin J.; Lindsay S.; Meindl A.; Gupta M.L. Jr.; Pellman D.; Engle E.C.;
Cell 140:74-87(2010)
Cited for: FUNCTION; VARIANTS CFEOM3A GLN-62; CYS-262; HIS-262; THR-302; CYS-380; LYS-410; HIS-417 AND ASN-417; CHARACTERIZATION OF VARIANTS CFEOM3A GLN-62; CYS-262; HIS-262; THR-302; CYS-380 AND LYS-410;
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.