Sickle Cell Disease Ontology Project

HBB, LYS132ASN

http://scdontology.h3abionet.org/ontology/SCDO_1000087

A mutation where the lysine residue in position 132 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. This mutation on its own produces Hb Yamagata which has reduced oxygen affinity, but no distinctive clinical abnormalities. However, when present in the same gene as the Hb S mutation (HBB, GLU6VAL), the sickling HbS-South End is produced.

Term info

curator note

Request inclusion into relevant ontology

dc:creator

SCDO (Jade Hotchkiss)

definition source

http://omim.org/entry/141900#0302

existence in other ontologies

Negligable

LYS132ASN, Contributing Hb S-South End Mutation, Contributing Beta S-South End Mutation, Hb Yamagata Mutation

Term relations

Subclass of:

Other HBB Variants

Related from:

has contributing genetic variation

Hemoglobin Genotype S/S-South End

has causal or contributing genetic variation

Hemoglobin S-South End
Sickle Cell Disease-S/S-South End