Subject: Re: Question about Hmgcr mutations
Dear Beverly,
enclosed is a wordfile with the clb/hmgcr alleles, their aa changes and
annotations about their respective strength if available. I have given the
alleles numbers (clb1-13) and would like to ask you to keep those numbers
as they refer to alleles we have in our stock collection and to our
published data (Natur 98). I noticed that you have two P element alleles
01152 and C14.5, this is the same P-element, it is likely a hypomorph as it
produces a weak germ cell migration defect. All this information should be
cited as Mark Van Doren and Ruth Lehmann, pers. com. Please let me know if
you have further questions. Thanks.
best wishes, ruth lehmann.
> Dear Dr. Lehmann,
>
> I am a curator for FlyBase and am working on the annotation of the
> Hmgcr gene. I would like to include the sites of the 4 nonsense and 7
> missense mutations mentioned in your 1998 Nature 396(6710):466-469
> paper. Unfortunately, the specific locations of the mutations are not
> provided. If you or your colleagues can send me the amino acid
> locations of the mutations, I'll include them in the annotation. The
> information will be cited as a personal communication from you to
> FlyBase. Thanks for your help.
>
> Sincerely,
>
> Beverley Matthews
> Curator, FlyBase Harvard
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dHMGR Allele Sequence Data
Personal communication by Mark Van Doren and Ruth Lehmann
reference Van Doren et al Nature 396, 466-469, (1998)
All bp numbers refer to pNB36C cDNA.
All aa numbers refer to translation of pNB36C
Simplified allele numbers for flybase in ()
Allele \* nt Change aa Change Comment
11.54 (1) G841A W91STOP Strong allele , Truncation before TM
homology region begins
26.31 (2) G2675A G566D Strong allele in catalytic domain
Conserved from man to plants
29.29 (3) G1508A A314T-- Strong allele in TM domain
G2405A G613S-- in catalytic domain Conserved in
C3295A Silent man
111.29 (4) C1799T Q411STOP Strong allele truncates after TM
14.26 (5) C2123T R519STOP Strong allele
79.30 (6) G2740A W724STOP Deletes C-term including catalytic GQD
12.12 (7) G2133A R522Q Strong allele in catalytic domain
Conserved from man to plants
15.25 (8) C2310T P581L in catalytic domain
Conserved from man to plants
59.14 (9) G2675A D703N in catalytic domain
Conserved in yeast and plants
E in mammals
99.47 (10) G2939A G791R in catalytic domain
Conserved from man to plants
H4.42 (11) T2971A S801R Strong allele in catalytic domain
Conserved from man to plants
102.06 (12) Same as 99.47 independent?
112.69 (13) G3191A G875S in catalytic domain
Conserved man to plant
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