Sickle Cell Disease Ontology Project

HBB, VAL23ILE

http://scdontology.h3abionet.org/ontology/SCDO_1000045

A mutation where the valine in position 23 in the primary sequence of a beta-chain produced by the HBB gene is replaced by isoleucine. When compounded with the HbS mutation in the same gene, the sickling Hemoglobin S-Antilles is produced.

Term info

curator note

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dc:creator

SCDO (Jade Hotchkiss)

definition source

http://omim.org/entry/141900#0244

Contributing Beta S-Antilles Mutation, Contributing Hb S-Antilles Mutation