Sickle Cell Disease Ontology Project

HBB, GLU121LYS

http://scdontology.h3abionet.org/ontology/SCDO_1000040

A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. This mutation is found as a single alteration in Hemoglobin O-Arab and is one of the two contributing mutations to the production of Hemoglobin S-Oman.

Term info

curator note

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dc:creator

SCDO (Jade Hotchkiss)

definition source

https://www.omim.org/entry/141900#0202, https://www.omim.org/entry/141900#0245

Beta O-Arab Mutation, Contributing Beta S-Oman Mutation, Glu121Lys