(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the MYD88 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering MYD88 transcript NM_002468.4.(upstream sequence) g.1004 agat c.-181 . . . . . . g.1064 tcctacttcttacgccccccacatcacccgcctcgagacctcaagggtagaggtgggcac c.-121 . . . . . . g.1124 ccccgcctccgcacttttgctcggggctccagattgtagggcagggcggcgcttctcgga c.-61 . . . . . . g.1184 aagcgaaagccggcggggcggggcgggtgccgcaggagaaagaggaagcgctggcagaca c.-1 . . . . . . g.1244 ATGCGACCCGACCGCGCTGAGGCTCCAGGACCGCCCGCCATGGCTGCAGGAGGTCCCGGC c.60 M R P D R A E A P G P P A M A A G G P G p.20 . . . . . . g.1304 GCGGGGTCTGCGGCCCCGGTCTCCTCCACATCCTCCCTTCCCCTGGCTGCTCTCAACATG c.120 A G S A A P V S S T S S L P L A A L N M p.40 . . . . . . g.1364 CGAGTGCGGCGCCGCCTGTCTCTGTTCTTGAACGTGCGGACACAGGTGGCGGCCGACTGG c.180 R V R R R L S L F L N V R T Q V A A D W p.60 . . . . . . g.1424 ACCGCGCTGGCGGAGGAGATGGACTTTGAGTACTTGGAGATCCGGCAACTGGAGACACAA c.240 T A L A E E M D F E Y L E I R Q L E T Q p.80 . . . . . . g.1484 GCGGACCCCACTGGCAGGCTGCTGGACGCCTGGCAGGGACGCCCTGGCGCCTCTGTAGGC c.300 A D P T G R L L D A W Q G R P G A S V G p.100 . . . . . . g.1544 CGACTGCTCGAGCTGCTTACCAAGCTGGGCCGCGACGACGTGCTGCTGGAGCTGGGACCC c.360 R L L E L L T K L G R D D V L L E L G P p.120 | 02. . . . . . g.2439 AGCATTG | AGGAGGATTGCCAAAAGTATATCTTGAAGCAGCAGCAGGAGGAGGCTGAGAAG c.420 S I E | E D C Q K Y I L K Q Q Q E E A E K p.140 . . . . . . g.2499 CCTTTACAGGTGGCCGCTGTAGACAGCAGTGTCCCACGGACAGCAGAGCTGGCGGGCATC c.480 P L Q V A A V D S S V P R T A E L A G I p.160 . . | 03 . . . . g.2948 ACCACACTTGATGACCCCCTGG | GGCATATGCCTGAGCGTTTCGATGCCTTCATCTGCTAT c.540 T T L D D P L G | H M P E R F D A F I C Y p.180 . . . . . . g.3008 TGCCCCAGCGACATCCAGTTTGTGCAGGAGATGATCCGGCAACTGGAACAGACAAACTAT c.600 C P S D I Q F V Q E M I R Q L E Q T N Y p.200 . . . . . . g.3068 CGACTGAAGTTGTGTGTGTCTGACCGCGATGTCCTGCCTGGCACCTGTGTCTGGTCTATT c.660 R L K L C V S D R D V L P G T C V W S I p.220 . . | 04 . . . . g.3316 GCTAGTGAGCTCATCGAAAAGAG | GTGCCGCCGGATGGTGGTGGTTGTCTCTGATGATTAC c.720 A S E L I E K R | C R R M V V V V S D D Y p.240 . . . . . | 05 . g.3659 CTGCAGAGCAAGGAATGTGACTTCCAGACCAAATTTGCACTCAGCCTCTCTCCAG | GTGCC c.780 L Q S K E C D F Q T K F A L S L S P G | A p.260 . . . . . . g.3719 CATCAGAAGCGACTGATCCCCATCAAGTACAAGGCAATGAAGAAAGAGTTCCCCAGCATC c.840 H Q K R L I P I K Y K A M K K E F P S I p.280 . . . . . . g.3779 CTGAGGTTCATCACTGTCTGCGACTACACCAACCCCTGCACCAAATCTTGGTTCTGGACT c.900 L R F I T V C D Y T N P C T K S W F W T p.300 . . . g.3809 CGCCTTGCCAAGGCCTTGTCCCTGCCCTGA c.930 R L A K A L S L P X p.309 . . . . . . g.3869 agactgttctgaggccctgggtgtgtgtgtatctgtctgcctgtccatgtacttctgccc c.*60 . . . . . . g.3929 tgcctcctcctttcgttgtaggaggaatctgtgctctacttacctctcaattcctggaga c.*120 . . . . . . g.3989 tgccaacttcacagacacgtctgcagcagctggacatcacatttcatgtcctgcatggaa c.*180 . . . . . . g.4049 ccagtggctgtgagtggcatgtccacttgctggattatcagccaggacactatagaacag c.*240 . . . . . . g.4109 gaccagctgagactaagaaggaccagcagagccagctcagctctgagccattcacacatc c.*300 . . . . . . g.4169 ttcaccctcagtttcctcacttgaggagtgggatggggagaacagagagtagctgtgttt c.*360 . . . . . . g.4229 gaatccctgtaggaaatggtgaagcatagctctgggtctcctgggggagaccaggcttgg c.*420 . . . . . . g.4289 ctgcgggagagctggctgttgctggactacatgctggccactgctgtgaccacgacactg c.*480 . . . . . . g.4349 ctggggcagcttcttccacagtgatgcctactgatgcttcagtgcctctgcacaccgccc c.*540 . . . . . . g.4409 attccacttcctccttccccacagggcaggtggggaagcagtttggcccagcccaaggag c.*600 . . . . . . g.4469 accccaccttgagccttatttcctaatgggtccacctctcatctgcatctttcacacctc c.*660 . . . . . . g.4529 ccagcttctgcccaaccttcagcagtgacaagtccccaagagactcgcctgagcagcttg c.*720 . . . . . . g.4589 ggctgcttttcatttccacctgtcaggatgcctgtggtcatgctctcagctccacctggc c.*780 . . . . . . g.4649 atgagaagggatcctggcctctggcatattcatcaagtatgagttctggggatgagtcac c.*840 . . . . . . g.4709 tgtaatgatgtgagcagggagccttcctccctgggccacctgcagagagctttcccacca c.*900 . . . . . . g.4769 actttgtaccttgattgccttacaaagttatttgtttacaaacagcgaccatataaaagc c.*960 . . . . . . g.4829 ctcctgccccaaagcttgtgggcacatgggcacatacagactcacatacagacacacaca c.*1020 . . . . . . g.4889 tatatgtacagacatgtactctcacacacacaggcaccagcatacacacgtttttctagg c.*1080 . . . . . . g.4949 tacagctcccaggaacagctaggtgggaaagtcccatcactgagggagcctaaccatgtc c.*1140 . . . . . . g.5009 cctgaacaaaaattgggcactcatctattccttttctcttgtgtccctactcattgaaac c.*1200 . . . . . . g.5069 caaactctggaaaggacccaatgtaccagtatttatacctctaatgaagcacagagagag c.*1260 . . . . . . g.5129 gaagagagctgcttaaactcacacaacaatgaactgcagacacagctgttctctccctct c.*1320 . . . . . . g.5189 ctccttcccagagcaatttatactttaccctcaggctgtcctctggggagaaggtgccat c.*1380 . . . . . . g.5249 ggtcttaggtgtctgtgccccaggacagaccctaggaccctaaatccaatagaaaatgca c.*1440 . . . . . . g.5309 tatctttgctccactttcagccaggctggagcaaggtaccttttcttaggatcttgggag c.*1500 . . . . . . g.5369 ggaatggatgcccctctctgcatgatcttgttgaggcatttagctgccatgcacctgtcc c.*1560 . . . . . . g.5429 ccctttaatactgggcattttaaagccatctcaagaggcatcttctacatgttttgtacg c.*1620 . . . . . . g.5489 cattaaaataatttcaaagatatctgagaaaagccgatatttgccattcttcctatatcc c.*1680 . . . . . g.5545 tggaatatatcttgcatcctgagtttataataataaataatattctaccttggaaa c.*1736 (downstream sequence)Legend:
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