Sickle Cell Disease Ontology Project

HBB, ASP73ASN

http://scdontology.h3abionet.org/ontology/SCDO_1000044

A mutation where the aspartic acid in position 73 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. This mutation is found as a single alteration in Hemoglobin Korle Bu and is one of the two contributing mutations to the production of Hemoglobin C-Harlem.

Term info

curator note

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dc:creator

SCDO (Jade Hotchkiss)

definition source

http://www.bloodjournal.org/content/bloodjournal/46/3/363.full.pdf?sso-checked=true

D73N, Asp73Asn