Hb Perpignan [beta136(H14)Gly-->Ser], a silent variant associated with normal hematology.
A second case of Hb Perpignan [beta136(H14)Gly-->Ser] was identified in a Burmese woman living in New Zealand. Although previously detected in France, this is the first formal description of the variant, which is electrophoretically silent and hematologically normal. This presentation as a benign substitution is in keeping with the low level of phylogenetic conservation of the H14 glycine.
Brennan
Stephen O
SO
Molecular Pathology Laboratory, University of Otago, Christchurch, New Zealand. steve.brennan@chmeds.ac.nz
Chan
Tim
T
D000328:Adult; D019943:Amino Acid Substitution; D001797:Blood Protein Electrophoresis; D005260:Female; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D002052:Myanmar / Q000208:ethnology; D009520:New Zealand; D010449:Peptide Mapping; D017354:Point Mutation; D055550:Protein Stability; D021241:Spectrometry, Mass, Electrospray Ionization; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C550546:hemoglobin Perpignan