(used for variant description)
(last modified October 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005360.4 in the MAF gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016440.1, covering MAF transcript NM_005360.4.(upstream sequence) . . . . g.5043 gaggctttaaaatcttttttcatcttctagctgtagctcgggc c.-781 . . . . . . g.5103 tgcttgtcggcttggcctccccctcccccctttgctctctgcctcgtctttccccaggac c.-721 . . . . . . g.5163 ttcgctattttgcttttttaaaaaaaggcaagaaagaactaaactcccccctccctctcc c.-661 . . . . . . g.5223 tccagtcgggctgcacctctgccttgcactttgcacagaggtagagagcgcgcgagggag c.-601 . . . . . . g.5283 agagaggaaagaaaaaaaataataaagagagccaagcagaagaggaggcgagaagcatga c.-541 . . . . . . g.5343 agtgttaactcccccgtgccaaggcccgcgccgcccggacagacgcccgccgcgcctcca c.-481 . . . . . . g.5403 gccccgagcggacgccgcgcgcgccctgcctgcagcccgggccggcgaggcgagcccttc c.-421 . . . . . . g.5463 cttatgcaaagcgcgcagcggagcggcgagcgggggacgccgcgcaccgggccgggctcc c.-361 . . . . . . g.5523 tccagcttcgccgccgcagccaccaccgccgccaccgcagctcgcggaggatcttcccga c.-301 . . . . . . g.5583 gcctgaagccgccggctcggcgcgcaaggaggcgagcgagcaaggaggggccggggcgag c.-241 . . . . . . g.5643 cgagggagcacattggcgtgagcaggggggagggagggcgggcgcggggggcgcgggcag c.-181 . . . . . . g.5703 ggcgggggggtgtgtgtgtgagcgcgctcggaggtttcgggccagccaccgccgcgcaag c.-121 . . . . . . g.5763 ctagaagcgccccagcccggcaagctggctcacccgctggccacccagcacagcccgctg c.-61 . . . . . . g.5823 gcccctctcctgcagcccatctggcggagcggcggcggcggcggcggcggcggcaggaga c.-1 . . . . . . g.5883 ATGGCATCAGAACTGGCAATGAGCAACTCCGACCTGCCCACCAGTCCCCTGGCCATGGAA c.60 M A S E L A M S N S D L P T S P L A M E p.20 . . . . . . g.5943 TATGTTAATGACTTCGATCTGATGAAGTTTGAAGTGAAAAAGGAACCGGTGGAGACCGAC c.120 Y V N D F D L M K F E V K K E P V E T D p.40 . . . . . . g.6003 CGCATCATCAGCCAGTGCGGCCGTCTCATCGCCGGGGGCTCGCTGTCCTCCACCCCCATG c.180 R I I S Q C G R L I A G G S L S S T P M p.60 . . . . . . g.6063 AGCACGCCGTGCAGCTCGGTGCCCCCTTCCCCCAGCTTCTCGGCGCCCAGCCCGGGCTCG c.240 S T P C S S V P P S P S F S A P S P G S p.80 . . . . . . g.6123 GGCAGCGAGCAGAAGGCGCACCTGGAAGACTACTACTGGATGACCGGCTACCCGCAGCAG c.300 G S E Q K A H L E D Y Y W M T G Y P Q Q p.100 . . . . . . g.6183 CTGAACCCCGAGGCGCTGGGCTTCAGCCCCGAGGACGCGGTCGAGGCGCTCATCAGCAAC c.360 L N P E A L G F S P E D A V E A L I S N p.120 . . . . . . g.6243 AGCCACCAGCTCCAGGGCGGCTTCGATGGCTACGCGCGCGGGGCGCAGCAGCTGGCCGCG c.420 S H Q L Q G G F D G Y A R G A Q Q L A A p.140 . . . . . . g.6303 GCGGCCGGGGCCGGTGCCGGCGCCTCCTTGGGCGGCAGCGGCGAGGAGATGGGCCCCGCC c.480 A A G A G A G A S L G G S G E E M G P A p.160 . . . . . . g.6363 GCCGCCGTGGTGTCCGCCGTGATCGCCGCGGCCGCCGCGCAGAGCGGCGCGGGCCCGCAC c.540 A A V V S A V I A A A A A Q S G A G P H p.180 . . . . . . g.6423 TACCACCACCACCACCACCACGCCGCCGGCCACCACCACCACCCGACGGCCGGCGCGCCC c.600 Y H H H H H H A A G H H H H P T A G A P p.200 . . . . . . g.6483 GGCGCCGCGGGCAGCGCGGCCGCCTCGGCCGGTGGCGCTGGGGGCGCGGGCGGCGGTGGC c.660 G A A G S A A A S A G G A G G A G G G G p.220 . . . . . . g.6543 CCGGCCAGCGCTGGGGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGGGGCGCGGCG c.720 P A S A G G G G G G G G G G G G G G A A p.240 . . . . . . g.6603 GGGGCGGGGGGCGCCCTGCACCCGCACCACGCCGCCGGCGGCCTGCACTTCGACGACCGC c.780 G A G G A L H P H H A A G G L H F D D R p.260 . . . . . . g.6663 TTCTCCGACGAGCAGCTGGTGACCATGTCTGTGCGCGAGCTGAACCGGCAGCTGCGCGGG c.840 F S D E Q L V T M S V R E L N R Q L R G p.280 . . . . . . g.6723 GTCAGCAAGGAGGAGGTGATCCGGCTGAAGCAGAAGAGGCGGACCCTGAAAAACCGCGGC c.900 V S K E E V I R L K Q K R R T L K N R G p.300 . . . . . . g.6783 TATGCCCAGTCCTGCCGCTTCAAGAGGGTGCAGCAGAGACACGTCCTGGAGTCGGAGAAG c.960 Y A Q S C R F K R V Q Q R H V L E S E K p.320 . . . . . . g.6843 AACCAGCTGCTGCAGCAAGTCGACCACCTCAAGCAGGAGATCTCCAGGCTGGTGCGCGAG c.1020 N Q L L Q Q V D H L K Q E I S R L V R E p.340 . . . . . . g.6903 AGGGACGCGTACAAGGAGAAATACGAGAAGTTGGTGAGCAGCGGCTTCCGAGAAAACGGC c.1080 R D A Y K E K Y E K L V S S G F R E N G p.360 . . . | 02 . . g.11194 TCGAGCAGCGACAACCCGTCCTCTCCCGAGTTTTTCAT | AACTGAGCCCACTCGCAAGTTG c.1140 S S S D N P S S P E F F I | T E P T R K L p.380 . . . . . . g.11254 GAGCCATCAGTGGGATACGCCACATTTTGGAAGCCCCAGCATCGTGTACTTACCAGTGTG c.1200 E P S V G Y A T F W K P Q H R V L T S V p.400 . g.11266 TTCACAAAATGA c.1212 F T K X p.403 . . . . . . g.11326 aatttgtgtgagagctgtacattaaaaaaaatcatcattattattattatttgcagtcat c.*60 . . . . . . g.11386 ggagaaccacctacccctgacttctgtttagtctcctttttaaataaaaattactgtgtt c.*120 . . . . . . g.11446 agagaagaaggctattaaatgtagtagttaactatgcctcttgtctgggggtttcataga c.*180 . . . . . . g.11506 gaccggtaggaaagcgcactcctgcttttcgatttatggtgtgtgcaagtaaacaggtgc c.*240 . . . . . . g.11566 attgctttcaacctgccatactagttttaaaaattcactgaaattacaaagatacatata c.*300 . . . . . . g.11626 tatgcatatatataatggaaagtttcccggaatgcaacaattagcattttaaaatcatat c.*360 . . . . . . g.11686 ataggcatgcacattctaaatagtactttttcatgcttcattgtttctctggcagataat c.*420 . . . . . . g.11746 tttactaagaagaaaaatagatattcgactccccttccctaaacaaatccacgggcagag c.*480 . . . . . . g.11806 gctccagcggagccgagccccctggttttctcgtaggccctagacggtgttgcatttatc c.*540 . . . . . . g.11866 agtgatgtcaaacgtgctcatttgtcagacatagctgtaaatgaaaacaatgtgtggcaa c.*600 . g.11878 aatacaaagtta c.*612 (downstream sequence)Legend:
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