ACVR1B Exon 10

Gene Sequence information for ENSG00000135503

Exon 1

1 ENSE00001483607 12 1

50,494,095 50,494,120 - -

26 AGGCCCCCGGGGGCGCGCGCCGCTCT

THIS STYLE: Location of other exons

THIS STYLE: Location of selected exons

THIS STYLE: Location of SNPs

Highlighted Red is a PCR and Sequencing Primer Sequence.

>chromosome:NCBI36:12:50493495:50677724:1

CCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCGAGAGAGCGAG |{base 180110:G/A}

ACCATCCTGGCCAACCAATATGGTAAAACCCCATCTCTACTAAAAATACAAAAATCAGCT

GGGCGTAGTGGTGTGTGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGACAGGAGAATCAC

TTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGG |{base 180270:G/A}

GTGACAGAGTGAGACTCCTTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |{base 180321:C/T}

AGGAAGAGCCAGGGAACAAAGGGAGCCTTGCAGAGCATTTCCCTAAGGTCGGCCGCCGGG |{base 180362:G/C} |{base 180412:G/C}

TGGATGTGGATCTGCCAGACTGCACTGAGCGGGAGGTGGCAGGGAAATGAGTGAGAGCCT

                              beginning of read

AGGGACCAGAAAGGCTTCTCCAGGGCATGACCGAGCTGATGGCTCCTGGGTCTCTGCACA

GGCACTGCGGGTGATGGGGAAGATGATGCGAGAGTGTTGGTATGCCAACGGCGCAGCCCG

CCTGACGGCCCTGCGCATCAAGAAGACCCTCTCCCAGCTCAGCGTGCAGGAAGACGTGAA

GATCTAACTGCTCCCTCTCTCCACACGGAGCTCCTGGCAGCGAGAACTACGCACAGCTGC

CGCGTTGAGCGTACGATGGAGGCCTACCTCTCGTTTCTGCCCAGCCCTCTGTGGCCAGGA |{base 180775:C/A}  Patient is a C at this position

GCCCTGGCCCGCAAGAGGGACAGAGCCCGGGAGAGACTCGCTCACTCCCATGTTGGGTTT

GAGACAGACACCTTTTCTATTTACCTCCTAATGGCATGGAGACTCTGAGAGCGAATTGTG

TGGAGAACTCAGTGCCACACCTCGAACTGGTTGTAGTGGGAAGTCCCGCGAAACCCGGTG

CATCTGGCACGTGGCCAGGAGCCATGACAGGGGCGCTTGGGAGGGGCCGGAGGAACCGAG

GTGTTGCCAGTGCTAAGCTGCCCTGAGGGTTTCCTTCGGGGACCAGCCCACAGCACACCA red is end of read for 1B017 044 1 run  blue is beginning of 1B019 010 1 run  The gold color is the beginning of the RevComp read of run 1B020 025  

AGGTGGCCCGGAAGAACCAGAAGTGCAGCCCCTCTCACAGGCAGCTCTGAGCCGCGCTTT

CCCCTCCTCCCTGGGATGGACGCTGCCGGGAGACTGCCAGTGGAGACGGAATCTGCCGCT

TTGTCTGTCCAGCCGTGTGTGCATGTGCCGAGGTGCGTCCCCCGTTGTGCCTGGTTCGTG

CCATGCCCTTACACGTGCGTGTGAGTGTGTGTGTGTGTCTGTAGGTGCGCACTTACCTGC

TTGAGCTTTCTGTGCATGTGCAGGTCGGGGGTGTGGTCGTCATGCTGTCCGTGCTTGCTG

GTGCCTCTTTTCAGTAGTGAGCAGCATCTAGTTTCCCTGGTGCCCTTCCCTGGAGGTCTC

TCCCTCCCCCAGAGCCCCTCATGCCACAGTGGTACTCTGTGTCTGGCAGGCTACTCTGCC

CACCCCAGCATCAGCACAGCTCTCCTCCTCCATCTCAGACTGTGGAACCAAAGCTGGCCC

AGTTGTCCATGACAAAAGAGGCTTTTGGGCCAAAATGTGAGGGTGGTGGGTGGGATGGGC

AGGGAAGGAATCCTGGTGGAAGTCTTGGGTGTTAGTGTCAGCCATGGGAAATGAGCCAGC |{base 181664:A/G} Patient is a Heterozygote at this position

CCAAGGGCATCATCCTCAGCAGCATCGAGGAAGGGCCGAGGAATGTGAAGCCAGATCTCG  red is end of 1B019 010 1 run

GGACTCAGATTGGAATGTTACATCTGTCTTTCATCTCCCAGATCCTGGAAACAGCAGTGT

ATATTTTTGGTGGTGGTGGGTTTGGGGTGGGGAAGGGAAGGGCGGGCAAGGAGTGGGGAG

GGAGTCTGGGGTGGGAGGGAGGCATCTGCATGGGTCTTCTTTTACTGGACTGTCTGATCA

GGGTGGAGGGAAGGTGAGAGGTTTGCATCCACTTCAGGAGCCCTACTGAAGGGAACAGCC

TGAGCCGAACATGTTATTTAACCTGAGTATAGTATTTAACGAAGCCTAGAAGCACGGCTG

TGGGTGGTGATTTGGTCAGCATATCTTAGGTATATAATAACTTTGAAGCCATAACTTTTA |{base 182057:C/A}

ACTGGAGTGGTTTGATTTCTTTTTTTAATTTTATTGGGAGGGTTTGGATTTTAACTTTTT

TTAATGTTGTTAAATATTAAGTTTTTGTAAAAGGAAAACCATCTCTGTGATTACCTCTCA

ATCTATTTGTTTTTAAAGAAATCCCTAAAAAAAAAAATTATCCAATTGAACGCACATAGC

TCAATCACACTGGAAATGTTTGTCCTTGCACCTGAGCCTGTTCCCACTCAGCAGTGAGAG

TTCCTCTTTGCCCTGAGGCTCAGTCTCTCTCGTATTTTGTCCCCACCCCCAATTCCTTGA red is the beginning of read 1B023 042 1  

GTGGTTTTTGCTCTAGGGCCCTTTCTTGCACTGTCCAGCTGGTTGTACCCTCTCCAGGCA

TTTATTCAACAAATGTGGGTGAAGTGCCTGCTGGGTGCCAGGTGCTGGGAATACATCTGT

GGACAAGACATGCTTGGGTCCTACTCCTGGAGCACTGTAAAAAGAGCTGATTCAAGTAAG

TAGATGCCTGTTTTGAGACCAGAAGGTTTCATAATTGGTTCTACGACCCTTTTGAGCCTA  Patient is an A/G Heterozygote at this site that is not documented as a variant – this finding is on both forward (1B023 042) and reverse (1B024 007) read of this amplicon

GAATTATTGTTCTTATATAAGATCACTGAAGAAAGAGGAACCCCCACAACCCCCTCCACA

AAGAGACCAGGGGCGGGTGATGAGACCTGGGGTTTAGAACCCCAGGTGAGACCTCAAATC

ACTGCATTCATTCTGAGCCCCCTTCCTGTCCCCAGGGGAGGTGTATTGTGTATGTAGCCT |{base 182766:A/G}  Patient is an A at this position

TAGAGCATCTCTGCCTCCAACCCAGCAGTTCTCTGCCAAAGCTTGTGGAGGAGGGAGAGC

CCTGTCCCTGCCCTCAGGCTCCCCAGTGCTCCTGGCCCTTCTATTTATTTGACTGATTAT

TGCTTCTTTCCTTGCATTAAAGGAGATCTTCCCCTAACCTTTGGGCCAATTTACTGGCCA

CTAATTTCGTTTAAATACCATTGTGTCATTGGGGGGACCGTCTTTACCC[A]CTGCTGACCTC  Blue is the beginning of the 1B025 00b read  The A appears ambiguously in the this read as a possible insertion.  There is no hint of an A in the RC read 1B 23 or the 24 read.  There is an N in RC read of 1B026 – 3 versus 4 C’s butno hint of an A signal.

CCACCTATCCGCCCTGCAGCAGAACCTTGGCGGTTTATAGGTAATGATGGAACTTAGACT |{base 183069:C/T}Patient is a C at this position  Red is the end of read 1B023 042 1

CCTCTTCCCAGAGTCACAAGTAGCCTCTGGGATCTGCCAACACACGTCCACTCCCAAGCC |{base 183169:C/T}  Patient is a C at this position

ACTAGCCCACTCCCCAGTTGGCCCTTCTGCCCTTACCCCACACACAGTCCAACTCTTCCA

CCTCTGGGGAAGATGGAGCAGGTCTTTGGGAAGCTCCCACACCCACCTCTGCCACTCTTA

ACACTAAGTGAGAGTTGGGGAGAAACTGAAGCCGTGTTTTTGGCCCCCCGAGGCTAACCC

TGATCCATAGTGCTACCTGCACCTCTGGATTCTGGATTCACAGACCAAGTCCAAGCCCGT

TCTTACGTCGCCATAAAGGCCCCCGAACGGCATTCTCGGTACTTCTGTTTGTTTTTGTAC

ATTTTATTAGAAAGGACTGTAAAATAGCCACTTAGACACTTTACCTCTTCAGTATGCAAA This G is an N on the 1B025 read because of low signal and could be hetero for A.

On Reverse read the signal is a clear G.

TGTAAATAAATTGTAATATAGGAAATCTTTTGTTTTAATATAAGAATGAGCCTGTCCAAT

TTCTGCTGTACATTATTAAAAGTTTTATTCACAGAGCTGCTCTGGTGCCATCTGTCCCAC

ATACGTAGTACGGCCACCCAGCTTTTGTCAGGGGAGTTGGGAATGGGGTGGATGTTCTAA

GGTCAGGGTCTCGTGCTCACACCAGCTGTAGCAGACCCCAGCAAGAGGAATGCTGTTCCC Red is end of read for 1B025

AACATCCTGGGTCTTCCTGAGACTGTTGCTTTGTGTTCCTAGAGGGCGGGTCTGGCATGC

AAGGGACAGAAGACACAAAGCATCCTTTTCTTGGGCTTTGTCTGAATTTGTCTTCTCACG

TTTTTTCCTGTTTACAAAAGAGGGTCATGTTCCTAGTTAGTCACACTCTCTCATGTCTTA

GAGGCATGAGCGCTCCTCCTAAGCTGAAGTGAAATTGTGAATTCTGGGATGCTTAGGTGA

CTTTGAGGAGGAAGTCTTCAGTGGTTACTCCTCTGGTATTCTCAGCGTGTGGTGGGTGTG

AATGTCCTCCCTCTCTGGGCTGAGGGAATCTAAAATAACAAGTCCTAGAATCATAGTCTC

CAGTTTAGATGAGACCCACAAGATCCCCTAGTTCACTGTCAGGCACTCGACTTCCCTGCG

ATGTCCCTGTCAGGTGCTTGTGTGGCCTCC

IDT Primers

AGGAAGAGCCAGGGAACAAAGGGAGCCTTGCAGAGCATTTCCCTAAGGTCGGCCGCCGGG

TGGATGTGGATCTGCCAGACTGCACTGAGCGGGAGGTGGCAGGGAAATGAGTGAGAGCCT

AGGGACCAGAAAGGCTTCTCCAGGGCATGACCGAGCTGATGGCTCCTGGGTCTCTGCACA

GGCACTGCGGGTGATGGGGAAGATGATGCGAGAGTGTTGGTATGCCAACGGCGCAGCCCG

CCTGACGGCCCTGCGCATCAAGAAGACCCTCTCCCAGCTCAGCGTGCAGGAAGACGTGAA

GATCTAACTGCTCCCTCTCTCCACACGGAGCTCCTGGCAGCGAGAACTACGCACAGCTGC

CGCGTTGAGCGTACGATGGAGGCCTACCTCTCGTTTCTGCCCAGCCCTCTGTGGCCAGGA

GCCCTGGCCCGCAAGAGGGACAGAGCCCGGGAGAGACTCGCTCACTCCCATGTTGGGTTT

GAGACAGACACCTTTTCTATTTACCTCCTAATGGCATGGAGACTCTGAGAGCGAATTGTG

TGGAGAACTCAGTGCCACACCTCGAACTGGTTGTAGTGGGAAGTCCCGCGAAACCCGGTG

CATCTGGCACGTGGCCAGGAGCCATGACAGGGGCGCTTGGGAGGGGCCGGAGGAACCGAG

GTGTTGCCAGTGCTAAGCTGCCCTGAGGGTTTCCTTCGGGGACCAGCCCACAGCACACCA

IDT Exon 10 Primers 10b

CATCTGGCACGTGGCCAGGAGCCATGACAGGGGCGCTTGGGAGGGGCCGGAGGAACCGAG

GTGTTGCCAGTGCTAAGCTGCCCTGAGGGTTTCCTTCGGGGACCAGCCCACAGCACACCA

AGGTGGCCCGGAAGAACCAGAAGTGCAGCCCCTCTCACAGGCAGCTCTGAGCCGCGCTTT

CCCCTCCTCCCTGGGATGGACGCTGCCGGGAGACTGCCAGTGGAGACGGAATCTGCCGCT

TTGTCTGTCCAGCCGTGTGTGCATGTGCCGAGGTGCGTCCCCCGTTGTGCCTGGTTCGTG

CCATGCCCTTACACGTGCGTGTGAGTGTGTGTGTGTGTCTGTAGGTGCGCACTTACCTGC

TTGAGCTTTCTGTGCATGTGCAGGTCGGGGGTGTGGTCGTCATGCTGTCCGTGCTTGCTG

GTGCCTCTTTTCAGTAGTGAGCAGCATCTAGTTTCCCTGGTGCCCTTCCCTGGAGGTCTC

TCCCTCCCCCAGAGCCCCTCATGCCACAGTGGTACTCTGTGTCTGGCAGGCTACTCTGCC

CACCCCAGCATCAGCACAGCTCTCCTCCTCCATCTCAGACTGTGGAACCAAAGCTGGCCC

AGTTGTCCATGACAAAAGAGGCTTTTGGGCCAAAATGTGAGGGTGGTGGGTGGGATGGGC

AGGGAAGGAATCCTGGTGGAAGTCTTGGGTGTTAGTGTCAGCCATGGGAAATGAGCCAGC

CCAAGGGCATCATCCTCAGCAGCATCGAGGAAGGGCCGAGGAATGTGAAGCCAGATCTCG

IDT Exon 10c primers

CACCCCAGCATCAGCACAGCTCTCCTCCTCCATCTCAGACTGTGGAACCAAAGCTGGCCC

AGTTGTCCATGACAAAAGAGGCTTTTGGGCCAAAATGTGAGGGTGGTGGGTGGGATGGGC

AGGGAAGGAATCCTGGTGGAAGTCTTGGGTGTTAGTGTCAGCCATGGGAAATGAGCCAGC

CCAAGGGCATCATCCTCAGCAGCATCGAGGAAGGGCCGAGGAATGTGAAGCCAGATCTCG

GGACTCAGATTGGAATGTTACATCTGTCTTTCATCTCCCAGATCCTGGAAACAGCAGTGT

ATATTTTTGGTGGTGGTGGGTTTGGGGTGGGGAAGGGAAGGGCGGGCAAGGAGTGGGGAG

GGAGTCTGGGGTGGGAGGGAGGCATCTGCATGGGTCTTCTTTTACTGGACTGTCTGATCA

GGGTGGAGGGAAGGTGAGAGGTTTGCATCCACTTCAGGAGCCCTACTGAAGGGAACAGCC

TGAGCCGAACATGTTATTTAACCTGAGTATAGTATTTAACGAAGCCTAGAAGCACGGCTG

TGGGTGGTGATTTGGTCAGCATATCTTAGGTATATAATAACTTTGAAGCCATAACTTTTA

ACTGGAGTGGTTTGATTTCTTTTTTTAATTTTATTGGGAGGGTTTGGATTTTAACTTTTT

TTAATGTTGTTAAATATTAAGTTTTTGTAAAAGGAAAACCATCTCTGTGATTACCTCTCA

ATCTATTTGTTTTTAAAGAAATCCCTAAAAAAAAAAATTATCCAATTGAACGCACATAGC

TCAATCACACTGGAAATGTTTGTCCTTGCACCTGAGCCTGTTCCCACTCAGCAGTGAGAG

TTCCTCTTTGCCCTGAGGCTCAGTCTCTCTCGTATTTTGTCCCCACCCCCAATTCCTTGA

GTGGTTTTTGCTCTAGGGCCCTTTCTTGCACTGTCCAGCTGGTTGTACCCTCTCCAGGCA

Invitrogen exon 10 c re-do primer 11 April 2007

AGTTGTCCATGACAAAAGAGGCTTTTGGGCCAAAATGTGAGGGTGGTGGGTGGGATGGGC

AGGGAAGGAATCCTGGTGGAAGTCTTGGGTGTTAGTGTCAGCCATGGGAAATGAGCCAGC

CCAAGGGCATCATCCTCAGCAGCATCGAGGAAGGGCCGAGGAATGTGAAGCCAGATCTCG

GGACTCAGATTGGAATGTTACATCTGTCTTTCATCTCCCAGATCCTGGAAACAGCAGTGT

ATATTTTTGGTGGTGGTGGGTTTGGGGTGGGGAAGGGAAGGGCGGGCAAGGAGTGGGGAG

GGAGTCTGGGGTGGGAGGGAGGCATCTGCATGGGTCTTCTTTTACTGGACTGTCTGATCA

GGGTGGAGGGAAGGTGAGAGGTTTGCATCCACTTCAGGAGCCCTACTGAAGGGAACAGCC

TGAGCCGAACATGTTATTTAACCTGAGTATAGTATTTAACGAAGCCTAGAAGCACGGCTG

TGGGTGGTGATTTGGTCAGCATATCTTAGGTATATAATAACTTTGAAGCCATAACTTTTA

ACTGGAGTGGTTTGATTTCTTTTTTTAATTTTATTGGGAGGGTTTGGATTTTAACTTTTT

TTAATGTTGTTAAATATTAAGTTTTTGTAAAAGGAAAACCATCTCTGTGATTACCTCTCA

ATCTATTTGTTTTTAAAGAAATCCCTAAAAAAAAAAATTATCCAATTGAACGCACATAGC

TCAATCACACTGGAAATGTTTGTCCTTGCACCTGAGCCTGTTCCCACTCAGCAGTGAGAG

TTCCTCTTTGCCCTGAGGCTCAGTCTCTCTCGTATTTTGTCCCCACCCCCAATTCCTTGA

GTGGTTTTTGCTCTAGGGCCCTTTCTTGCACTGTCCAGCTGGTTGTACCCTCTCCAGGCA

TTTATTCAACAAATGTGGGTGAAGTGCCTGCTGGGTGCCAGGTGCTGGGAATACATCTGT

IDT Exon 10d this forward primer is the same site but not the same sequence as the reverse primer for the block above

TCAATCACACTGGAAATGTTTGTCCTTGCACCTGAGCCTGTTCCCACTCAGCAGTGAGAG

TTCCTCTTTGCCCTGAGGCTCAGTCTCTCTCGTATTTTGTCCCCACCCCCAATTCCTTGA

GTGGTTTTTGCTCTAGGGCCCTTTCTTGCACTGTCCAGCTGGTTGTACCCTCTCCAGGCA

GTGGTTTTTGCTCTAGGGCCCTTTCTTGCACTGTCCAGCTGGTTGTACCCTCTCCAGGCA

TTTATTCAACAAATGTGGGTGAAGTGCCTGCTGGGTGCCAGGTGCTGGGAATACATCTGT

GGACAAGACATGCTTGGGTCCTACTCCTGGAGCACTGTAAAAAGAGCTGATTCAAGTAAG

TAGATGCCTGTTTTGAGACCAGAAGGTTTCATAATTGGTTCTACGACCCTTTTGAGCCTA undocumented variant

GAATTATTGTTCTTATATAAGATCACTGAAGAAAGAGGAACCCCCACAACCCCCTCCACA

AAGAGACCAGGGGCGGGTGATGAGACCTGGGGTTTAGAACCCCAGGTGAGACCTCAAATC

ACTGCATTCATTCTGAGCCCCCTTCCTGTCCCCAGGGGAGGTGTATTGTGTATGTAGCCT

TAGAGCATCTCTGCCTCCAACCCAGCAGTTCTCTGCCAAAGCTTGTGGAGGAGGGAGAGC

CCTGTCCCTGCCCTCAGGCTCCCCAGTGCTCCTGGCCCTTCTATTTATTTGACTGATTAT

TGCTTCTTTCCTTGCATTAAAGGAGATCTTCCCCTAACCTTTGGGCCAATTTACTGGCCA

CTAATTTCGTTTAAATACCATTGTGTCATTGGGGGGACCGTCTTTACCCCTGCTGACCTC

CCACCTATCCGCCCTGCAGCAGAACCTTGGCGGTTTATAGGTAATGATGGAACTTAGACT

Exon 10 e

TGCTTCTTTCCTTGCATTAAAGGAGATCTTCCCCTAACCTTTGGGCCAATTTACTGGCCA

CTAATTTCGTTTAAATACCATTGTGTCATTGGGGGGACCGTCTTTACCCCTGCTGACCTC

CCACCTATCCGCCCTGCAGCAGAACCTTGGCGGTTTATAGGTAATGATGGAACTTAGACT

CCTCTTCCCAGAGTCACAAGTAGCCTCTGGGATCTGCCAACACACGTCCACTCCCAAGCC

ACTAGCCCACTCCCCAGTTGGCCCTTCTGCCCTTACCCCACACACAGTCCAACTCTTCCA

CCTCTGGGGAAGATGGAGCAGGTCTTTGGGAAGCTCCCACACCCACCTCTGCCACTCTTA

ACACTAAGTGAGAGTTGGGGAGAAACTGAAGCCGTGTTTTTGGCCCCCCGAGGCTAACCC

TGATCCATAGTGCTACCTGCACCTCTGGATTCTGGATTCACAGACCAAGTCCAAGCCCGT

TCTTACGTCGCCATAAAGGCCCCCGAACGGCATTCTCGGTACTTCTGTTTGTTTTTGTAC

ATTTTATTAGAAAGGACTGTAAAATAGCCACTTAGACACTTTACCTCTTCAGTATGCAAA

TGTAAATAAATTGTAATATAGGAAATCTTTTGTTTTAATATAAGAATGAGCCTGTCCAAT

TTCTGCTGTACATTATTAAAAGTTTTATTCACAGAGCTGCTCTGGTGCCATCTGTCCCAC

ATACGTAGTACGGCCACCCAGCTTTTGTCAGGGGAGTTGGGAATGGGGTGGATGTTCTAA

GGTCAGGGTCTCGTGCTCACACCAGCTGTAGCAGACCCCAGCAAGAGGAATGCTGTTCCC

AACATCCTGGGTCTTCCTGAGACTGTTGCTTTGTGTTCCTAGAGGGCGGGTCTGGCATGC