FUT1(E184Vfs*85,I272V)

Structure

FUT1(E184Vfs*85,I272V)

Key changes from standard allele

c.551_552del (Glu184ValfsTer85)
c.814A>G (Ile272Val)

ISBT allele designation

No designation assigned

Nucleotide changes relative to "standard FUT1"

c.[551 delAG;814 A>G]

Amino acid changes relative to standard protein

Glu184ValfsTer85, Ile272Val

ISBT group

Phenotype characterization and grouping

Descriptions

Other relevant descriptions:
Lin JJ et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):165-7. doi:

Serology

para-Bombay Lin JJ et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):165-7. doi:

Observations

China (general): 1 case in trans to c.551-552del alone. Cis-constellation proven by family analysis Lin JJ et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):165-7. doi:

Additional comments

Last update: 2020-03-17 (yyyy-MM-dd)