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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BVA1: Variant p.Leu228Pro

Tubulin beta-2B chain
Gene: TUBB2B
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Variant information Variant position: help 228
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 228 (L228P, p.Leu228Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In CDCBM7.
Other resources: help


Sequence information Variant position: help 228
Protein sequence length: help 445
Location on the sequence: help YDICFRTLKLTTPTYGDLNH L VSATMSGVTTCLRFPGQLNA
Residue conservation: help 
Human                         YDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNA

Mouse                         YDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNA

Rat                           YDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNA

Bovine                        YDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 445 Tubulin beta-2B chain
Binding site 226 – 226



Literature citations
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Jaglin X.H.; Poirier K.; Saillour Y.; Buhler E.; Tian G.; Bahi-Buisson N.; Fallet-Bianco C.; Phan-Dinh-Tuy F.; Kong X.P.; Bomont P.; Castelnau-Ptakhine L.; Odent S.; Loget P.; Kossorotoff M.; Snoeck I.; Plessis G.; Parent P.; Beldjord C.; Cardoso C.; Represa A.; Flint J.; Keays D.A.; Cowan N.J.; Chelly J.;
Nat. Genet. 41:746-752(2009)
Cited for: FUNCTION; VARIANTS CDCBM7 PRO-172; THR-210; PRO-228; LEU-265 AND MET-312; VARIANT SER-201; CHARACTERIZATION OF VARIANTS CDCBM7 PRO-172 AND LEU-265;
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.