Table 1. DNA sequence information for GDF9, BMP15, and BMP15R1B missense variants identified in the sheep diversity panel (MSDPv2.4).
Gene | Codon
variant a |
Position
(Oar_v3.1) |
Exon | Pro.
dom. b |
Codon c | Codon
allele d |
MAF e | Flanking genomic sequence |
---|---|---|---|---|---|---|---|---|
GDF9 | R87H | chr5:41,843,258 | 1 | PRO | c Rc | c
Gc = R
c Ac = H |
0.037 | ggtgggagacacagacctggtctcctttcccctctcttagaggttctgtatgatgggcacggggaaccccccaggctgcagccagatgacagagctttgc
[R] ctacatgaagaggctctataaggcatacgctaccaaggaggggacccctaaatccaacagacgccacctctacaacactgttcggctcttcaccccctgt |
E241K | chr5:41,841,675 | 2 | PRO | Raa |
Gaa = E
Aaa = K |
0.037 | gaaatacaaatggatggagattgatgtgacggctcctcttgagcctctggtggcctcccacaagaggaatattcacatgtctgtaaattttacatgtgcg
[R] aagaccagctgcagcatccttcagcgcgggacagcctgtttaacatgactcttctcgtagcgccctcactgcttttgtatctgaacgacacaagtgctca |
|
V332I | chr5:41,841,402 | 2 | MAT | Rtt |
Gtt = V
Att = I |
0.245 | atctgcctaccccgtgggagaagaagctgctgagggtgtaagatcgtcccgtcaccgcagagaccaggagagtgccagctctgaattgaagaagcctctg
[R] ttccagcttcagtcaatctgagtgaatacttcaaacagtttctttttccccagaatgaatgtgagctccatgactttagacttagctttagtcagctgaa |
|
V371M | chr5:41,841,285 | 2 | MAT | Rtg |
Gtg = V
Atg = M |
0.026 | tctgagtgaatacttcaaacagtttctttttccccagaatgaatgtgagctccatgactttagacttagctttagtcagctgaagtgggacaactggatt
[R] tggccccacacaaatacaaccctcgatactgtaaaggggactgtcccagggcggtcggacatcggtatggctctccggttcacaccatggtgcagaacat |
|
BMP15 | L11ΔL f | chrX:50,977,397 | 1 | PRO | indel | cttctt = LL
ctt = L |
0.344 | gtaaaaggaaaggtttaaagcgttatcctttgggcttttatcagaacatgttgctgaacaccaagcttttcaagatggtcctcctgagcatccttagaatc
[cttctt/ctt] tggggactggtgctttttatggaacatagggtccaaatgacacaggtagggcagccctctattgcccacctgcctgaggcccctaccttgcccctgattc |
R67Q | chrX:50,977,228 | 1 | PRO | c Rg | c
Gg = R
c Ag = Q |
0.010 | cacctgcctgaggcccctaccttgcccctgattcaggagctgctagaagaagcccctggcaagcagcagaggaagccgcgggtcttagggcatcccttac
[R] gtatatgctggagctgtaccagcgttcagctgacgcaagtggacaccctagggaaaaccgcaccattggggccaccatggtgaggctggtgaggccgctg |
|
L252P | chrX:50,971,365 | 1 | MAT | c Yg | c
Tg = L
c Cg = P |
0.083 | ttctggtggcatggcacttcatcattggacactgtcttcttgttactgtatttcaatgacactcagagtgttcagaagaccaaacctctccctaaaggcc
[Y] gaaagagtttacagaaaaagacccttctcttctcttgaggagggctcgtcaagcaggcagtattgcatcggaagttcctggcccctccagggagcatgat |
|
BMPR1B | M64I | chr6:29,401,381 | 4 | AR | at R | at
G = M
at A = I |
0.026 | acacacacacacacacacacacacacacatactttgcctgtttgatctttagcacagatggatattgtttcacgatgatagaagaagatgactctgggat
[R] cctgtggtcacttctggatgtctaggactagaaggctcagattttcagtgtcgggtaaggaagataccttggttccactttgtaaccttttattggcaag |
T345N | chr6:29,380,795 | 9 | AS-AL | a Mt | a
At = T
a Ct = N |
0.026 | cctgtggtcacttctggatgtctaggactagaaggctcagattttcagtgtcgggtaaggaagataccttggttccactttgtaaccttttattggcaag
[M] ctctgtcacttacacactgaaatctttagcactcaaggcaaaccagcaattgcccatcgagatctgaaaagtaagaacatcctggtgaagaaaaatggaa |
aAll variants and sequences are oriented from the sense strand perspective. However, GDF9, BMP15, and BMPR1B are oriented in the opposite direction with regards to the Oar_v3.1 reference assembly. Alphabetical abbreviations for relevant amino acids: E, glutamate; H, histidine; I, isoleucine; K, lysine; L, leucine; M, methionine; N, asparagine; P, proline; Q, glutamine; R, arginine; T, threonine; and V, valine.
bProtein domain abbreviations: PRO, propeptide; MAT, mature peptide; AR, activin receptor domain; and AS-AL, between the active site proton acceptor and the activation loop domains.
cIUPAC/IUBMB ambiguity codes used for nucleotides: R = a/g, Y = c/t, M = a/c, K = g/t, S = c/g, W = a/t 35.
dThe major allele is listed first.
eMinor allele frequency in MSDPv2.4.
fThe L11ΔL variant is an abbreviation for p.(Leu10_11delinsLeu), the recommended nomenclature for this variant by the Human Genome Variation Society 36.