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. 2017 Aug 2;6:1303. [Version 1] doi: 10.12688/f1000research.12216.1

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.