(used for variant description)
(last modified October 4, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006341.3 in the MAD2L2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering MAD2L2 transcript NM_006341.3.(upstream sequence) g.15415 ccgtgcgg c.-181 . . . . . . g.15475 gaatgggcgtggcctgggcggggcgggcgctaggacccaccggagcgccgtgaacgtcac c.-121 . . . . . . g.15535 cgagcggcgccgaggccccgggttgagcgggaggcgcgatcggtccggtcggtggctccc c.-61 . . . . . | 02. g.16020 cgcggcggggccgggcccgatctcgggcgggaaccgagcgcagagccg | gtagcgggaagg c.-1 . . . . | 03 . . g.16170 ATGACCACGCTCACACGACAAGACCTCAACTTTGGCCAAG | TGGTGGCCGATGTGCTCTGC c.60 M T T L T R Q D L N F G Q V | V A D V L C p.20 . . . . . . g.16230 GAGTTCCTGGAGGTGGCTGTGCATCTCATCCTCTACGTGCGCGAGGTCTACCCCGTGGGC c.120 E F L E V A V H L I L Y V R E V Y P V G p.40 . . . | 04 . . g.19028 ATCTTCCAGAAACGCAAGAAGTACAACGTGCCGGTCCAG | ATGTCCTGCCACCCGGAGCTG c.180 I F Q K R K K Y N V P V Q | M S C H P E L p.60 . . . . . | 05 . g.19682 AATCAGTATATCCAGGACACGCTGCACTGCGTCAAGCCACTCCTGGAGAAG | AATGATGTG c.240 N Q Y I Q D T L H C V K P L L E K | N D V p.80 . . . . . . g.19742 GAGAAAGTGGTGGTGGTGATTTTGGATAAAGAGCACCGCCCAGTGGAGAAATTCGTCTTT c.300 E K V V V V I L D K E H R P V E K F V F p.100 . . . | 06 . . . g.20509 GAGATCACCCAGCCTCCACTGCTGTCCATCAG | CTCAGACTCGCTGTTGTCTCATGTGGAG c.360 E I T Q P P L L S I S | S D S L L S H V E p.120 . . . . . . g.20569 CAGCTGCTCCGGGCCTTCATCCTGAAGATCAGCGTGTGCGATGCCGTCCTGGACCACAAC c.420 Q L L R A F I L K I S V C D A V L D H N p.140 | 07. . . . . . g.20943 CCCCCAG | GCTGTACCTTCACAGTCCTGGTGCACACGAGAGAAGCCGCCACTCGCAACATG c.480 P P G | C T F T V L V H T R E A A T R N M p.160 . . | 08 . . . . g.21486 GAGAAGATCCAGGTCATCAAG | GATTTCCCCTGGATCCTGGCGGATGAGCAGGATGTCCAC c.540 E K I Q V I K | D F P W I L A D E Q D V H p.180 . . . . . | 09 . g.21811 ATGCATGACCCCCGGCTGATACCACTAAAAACCATGACGTCGGACATTTTAAAG | ATGCAG c.600 M H D P R L I P L K T M T S D I L K | M Q p.200 . . . g.21847 CTTTACGTGGAAGAGCGCGCTCATAAAGGCAGCTGA c.636 L Y V E E R A H K G S X p.211 . . . . . . g.21907 gggggcacctgccaccccactgatgcccaaactgtcagactttgggggatccccgcctag c.*60 . . . . . . g.21967 ggcagtgctgcatggctgccctgattccaagtgctcttatcgcctctgtgtgtggatcgc c.*120 . . . . . . g.22027 ccgccccagcccggggccgctcaggtctgcttggaggatgcctcccccaggagggcagtg c.*180 . . . . . . g.22087 agggatgccgcaacctcgacttctcagcctcctggggttccgccggccaacactgtctgt c.*240 . . . . . g.22142 ctcaaatactgtgctgtgagttgtttcaataaaggggccccaagggctgggctga c.*295 (downstream sequence)Legend:
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