ABCB4 p.Lys626*
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PMID: 21298007
[PubMed]
Moitra K et al: "Molecular evolutionary analysis of ABCB5: the ancestral gene is a full transporter with potentially deleterious single nucleotide polymorphisms."
No.
Sentence
Comment
129
The D loop SNP D1187G had a score of -6.60494, indicating that this could also be deleterious to function (Note: Three of the residue changes, A20E, K1056E, and K626X, could not be calculated using Panther because the positions did not align to the hidden Markov model).
X
ABCB4 p.Lys626* 21298007:129:161
status: NEW