This natural variant identified by protein sequencing, produces a single beta globin with one reactive cysteine (betaCyst13). Two structurally identical beta globins migrate during electrophoresis in a dimer with alpha globin as a single band, therefore the s designation. (J:118857)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count