Sickle Cell Disease Ontology Project

HBB, GLU121GLN

http://scdontology.h3abionet.org/ontology/SCDO_1000109

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 glutamine.

Term info

curator note

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dc:creator

SCDO (Jade Hotchkiss)

dc:source

http://www.omim.org/entry/141900#0065, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382585/

Beta 121Glu>Gln, Beta D-Punjab Mutation

rdfs:comment

Derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267).