PMID: 8872466

Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY
A 27 base-pair deletion of the anti-mullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome.
Hum Mol Genet. 1996 Sep;5(9):1269-77., [PubMed]
Sentences
No. Mutations Sentence Comment
123 ABCC8 p.Val458Ala
X
ABCC8 p.Val458Ala 8872466:123:9
status: NEW
view ABCC8 p.Val458Ala details
 Mutation V458A is located in insert 2 itself and D491H immediately precedes a proline which plays a key role in transphosphorylation of receptor type I (21). Login to comment 124 ABCC8 p.Arg504Cys
X
ABCC8 p.Arg504Cys 8872466:124:36
status: NEW
view ABCC8 p.Arg504Cys details
 Missense mutations H282Q, D491H and R504C involve amino acids conserved in the receptor family. Login to comment