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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P46937: Variant p.Gly462Glu

Transcriptional coactivator YAP1
Gene: YAP1
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Variant information Variant position: help 462
Type of variant: help LB/B
Residue change: help From Glycine (G) to Glutamate (E) at position 462 (G462E, p.Gly462Glu).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (E)
BLOSUM score: help -2


Sequence information Variant position: help 462
Protein sequence length: help 504
Location on the sequence: help PDYLEAIPGTNVDLGTLEGD G MNIEGEELMPSLQEALSSDI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 504 Transcriptional coactivator YAP1
Region 291 – 504 Transactivation domain



Literature citations
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Williamson K.A.; Rainger J.; Floyd J.A.; Ansari M.; Meynert A.; Aldridge K.V.; Rainger J.K.; Anderson C.A.; Moore A.T.; Hurles M.E.; Clarke A.; van Heyningen V.; Verloes A.; Taylor M.S.; Wilkie A.O.; Fitzpatrick D.R.; Hurles M.; FitzPatrick D.R.; Al-Turki S.; Anderson C.; Barroso I.; Beales P.; Bentham J.; Bhattacharya S.; Carss K.; Chatterjee K.; Cirak S.; Cosgrove C.; Daly A.; Floyd J.; Franklin C.; Futema M.; Humphries S.; McCarthy S.; Mitchison H.; Muntoni F.; Onoufriadis A.; Parker V.; Payne F.; Plagnol V.; Raymond L.; Savage D.; Scambler P.; Schmidts M.; Semple R.; Serra E.; Stalker J.; van Kogelenberg M.; Vijayarangakannan P.; Walter K.; Wood G.;
Am. J. Hum. Genet. 94:295-302(2014)
Cited for: INVOLVEMENT IN COB1; VARIANTS LEU-139; LEU-227; VAL-330 AND GLU-462;
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.