Albumin Church Bay: 560 Lys-->Glu a new mutation detected by electrospray ionisation mass spectrometry.
Albumin Church Bay is a fast migrating genetic variant of human serum albumin which, in a heterozygous subject, formed about 50% of the circulating albumin. Reversed phase peptide mapping and electrospray ionisation mass spectrometry (ESI-MS) indicated that the C-terminal CNBr peptide had decreased polarity associated with a 1 Da increase in mass. Subdigestion of this peptide with trypsin and chymotrypsin revealed that the increased mass was associated with the chymotrypsin fragment VEKCCKADDKETCF (555-568) which had a mass of 1791.1 compared to 1790.2 for its normal counterpart. Sequence analysis of PCR-amplified DNA indicated an A-->G mutation at position 98 of exon 13, which causes a point mutation of 560 Lys-->Glu and results in a 1 Da mass increase.
Chua
E K
EK
Department of Pathology, Christchurch School of Medicine, New Zealand.
Brennan
S O
SO
George
P M
PM
D000595:Amino Acid Sequence; D002918:Chymotrypsin / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D013058:Mass Spectrometry; D008969:Molecular Sequence Data; D010446:Peptide Fragments / Q000737:chemistry; D010449:Peptide Mapping; D017354:Point Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA; D012709:Serum Albumin / Q000737:chemistry* / Q000235:genetics; D000075462:Serum Albumin, Human; D014357:Trypsin / Q000378:metabolism
D010446:Peptide Fragments; D012709:Serum Albumin; C111667:albumin Church Bay; D002918:Chymotrypsin; D014357:Trypsin; D000075462:Serum Albumin, Human