ABCC8 p.Ile49Ser
| Predicted by SNAP2: | A: N (66%), C: N (82%), D: D (59%), E: N (53%), F: N (78%), G: N (53%), H: N (57%), K: N (53%), L: N (97%), M: N (93%), N: N (53%), P: D (59%), Q: N (66%), R: N (57%), S: N (87%), T: N (78%), V: N (97%), W: N (61%), Y: N (66%), |
| Predicted by PROVEAN: | A: N, C: N, D: D, E: D, F: N, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, V: N, W: D, Y: D, |
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[hide] Molecular genetics of the persistent mullerian duc... Hum Mol Genet. 1994 Jan;3(1):125-31. Imbeaud S, Carre-Eusebe D, Rey R, Belville C, Josso N, Picard JY
Molecular genetics of the persistent mullerian duct syndrome: a study of 19 families.
Hum Mol Genet. 1994 Jan;3(1):125-31., [PMID:8162013]
Abstract [show]
A rare form of familial male pseudohermaphroditism, the persistent Mullerian duct syndrome (PMDS) is characterized by persistence of uterus and Fallopian tubes in 46,XY phenotypic males and is ascribed to defects in the synthesis or action of anti-Mullerian hormone (AMH). Biologically, PMDS is heterogeneous: in some cases, bioactive AMH is normally expressed by testicular tissue while, in others, no AMH is produced, suggesting the possibility of an AMH gene mutation, several of which have already been described. Molecular analysis of the AMH gene has now been performed in 21 additional patients and their families. In 6 patients, with normal serum concentration of AMH, the AMH gene was normal or contained only polymorphisms and silent mutations, supporting the hypothesis that the condition is due to end-organ resistance. Nine novel mutations were discovered in the remaining subjects, with low or undetectable levels of serum AMH. These mutations, when present in homozygotes or compound heterozygotes, were associated with the PMDS phenotype, the same mutation never being observed in two different families. The three first exons of the AMH gene appear particularly mutation-prone, although they are less GC rich than the 2 last ones and code for the N-terminal part of the AMH protein, which is not in itself essential to bioactivity.
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No. Sentence Comment
90 :ii)2 Change atCpG no no no no no no yes no IK) no re no yes yes no no no r:> no Amino Acid Change V 1 2 G I49S L70P L84 G101 V G101 R123W Y K.7C • > !
X
ABCC8 p.Ile49Ser 8162013:90:107
status: NEW101 The genotype shows the presence or absence of polymorphisms A (I49S), B (A1207G) and C (G413).
X
ABCC8 p.Ile49Ser 8162013:101:63
status: NEW