Sequence analysis revealed that this mutation comprises 7 nucleotide substitutions within a 24 base pair stretch compared with the parental genome sequence. The consequence is 4 amino acid substitutions: at amino acid position 22 (Tyr to Phe); amino acid position 23 (Met to Ile); amino acid position 24 (Glu to Ser); and amino acid position 30 (Asp to Asn). (J:207001)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count