ABCMdb

ABCC8 p.Val86Arg

ClinVar:	c.257T>C , p.Val86Ala D , Pathogenic
Predicted by SNAP2:	A: N (78%), C: N (78%), D: D (59%), E: N (53%), F: N (93%), G: N (57%), H: N (57%), I: N (93%), K: N (57%), L: N (93%), M: N (82%), N: N (57%), P: D (63%), Q: N (57%), R: D (53%), S: N (66%), T: N (78%), W: D (53%), Y: N (66%),
Predicted by PROVEAN:	A: N, C: N, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, W: D, Y: D,

[switch to compact view]
Comments [show]

None has been submitted yet.

Publications
[hide] Interactions between three common subunits of yeas... Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5524-8. Lalo D, Carles C, Sentenac A, Thuriaux P
Interactions between three common subunits of yeast RNA polymerases I and III.
Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5524-8., [PMID:8516295]

Abstract [show]
The AC40 and AC19 subunits (encoded by RPC40 and RPC19) are shared by yeast RNA polymerases I and III and have a local sequence similarity to prokaryotic alpha subunits. Mutational analysis of the corresponding "alpha motif" indicated that its integrity is essential on AC40 subunit but is not essential on AC19 subunit. By applying the two-hybrid method, these two polypeptides were shown to associate in vivo. Extragenic suppression of rpc19 and rpc40 mutations confirmed that AC19 and AC40 subunits interact with each other in vivo and revealed an interaction with ABC10 beta subunit [encoded by RPB10; Woychick, N. A. & Young, R.A. (1990) J. Biol. Chem. 265, 17816-17819], one of the five polypeptides common to all three nuclear RNA polymerases. A correction of the RPB10 sequence showed that ABC10 beta subunit is a 70-amino acid polypeptide, as confirmed by peptide microsequencing. These results suggest that the assembly of RNA polymerase I and III requires the association of ABC10 beta subunit with an AC19/AC40 heterodimer.

Comments [show]

None has been submitted yet.

Sentences [show]
No. Sentence Comment
62 The remaining three mutations are ts: rpcl9-Y78R brought the AC19 sequence closer to the consensus a motif by restoring a highly conserved pair of arginines (see Fig. 1A), whereas rpcl9-G73D and rpcl9-V86R corresponded to the ts mutations rpc40-A64D and rpc40-V78R. Login to comment
113 Growth phenotype of rpc40 and rpcl9 mutants Triplet Growth at Mutant substitution 20°C 300C 37°C Phenotype* RPC40 DLY10 (A64D) GCG/GAC + ++ - ts DLY62 (N65D) AAT/GAT + + + 1 DLY59 (N65H) AAT/CAT + ++ ++ 1 DLY28 (N65Q) AAT/CAA - ++ +++ Cs DLY18 (R68K) CGT/AAG + ++ ++ 1 DLY48 (R69K) CGT/AAG + + + 1 DLY78 (R69C) CGT/TGT - + - cs,ts DLY7 (V78R) GTG/AGG ++ +++ - ts DLY7Ct (V78R) GTG/AGG + + + + + - ts RPC19 DLY202 (G73D) GGA/GAT ++ +++ - ts DLY208 (Y78R) TAC/CGC ++ +++ ++ ts DLY210 (V86R) GTA/CGA + + + + + + ts Except for strain DLY7C, the mutations were borne on the centromeric plasmid p7040 (URA3 RPC40) or p3519 (TRPI RPCI9) in a chromosomal rpc4O-A::HIS3 or rpc19-Ai::HIS3 context. Login to comment