(used for variant description)
(last modified June 30, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000244.3 in the MEN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008929.1, covering MEN1 transcript NM_000244.3.
(upstream sequence)
. . . . . g.5628
ggtgtccggagccgcggacctagagatcccagaagccacagcgcagcggc c.-61
. . . . | 02 . . g.6185
ccggcccgccactatttccaggctcagcggggcaggg | gccgccgcccaccgcccgccgcc c.-1
. . . . . . g.6245
ATGGGGCTGAAGGCCGCCCAGAAGACGCTGTTCCCGCTGCGCTCCATCGACGACGTGGTG c.60
M G L K A A Q K T L F P L R S I D D V V p.20
. . . . . . g.6305
CGCCTGTTTGCTGCCGAGCTGGGCCGAGAGGAGCCGGACCTGGTGCTCCTTTCCTTGGTG c.120
R L F A A E L G R E E P D L V L L S L V p.40
. . . . . . g.6365
CTGGGCTTCGTGGAGCATTTTCTGGCTGTCAACCGCGTCATCCCTACCAACGTTCCCGAG c.180
L G F V E H F L A V N R V I P T N V P E p.60
. . . . . . g.6425
CTCACCTTCCAGCCCAGCCCCGCCCCCGACCCGCCTGGCGGCCTCACCTACTTTCCCGTG c.240
L T F Q P S P A P D P P G G L T Y F P V p.80
. . . . . . g.6485
GCCGACCTGTCTATCATCGCCGCCCTCTATGCCCGCTTCACCGCCCAGATCCGAGGCGCC c.300
A D L S I I A A L Y A R F T A Q I R G A p.100
. . . . . . g.6545
GTCGACCTGTCCCTCTATCCTCGAGAAGGGGGTGTCTCCAGCCGTGAGCTGGTGAAGAAG c.360
V D L S L Y P R E G G V S S R E L V K K p.120
. . . . . . g.6605
GTCTCCGATGTCATATGGAACAGCCTCAGCCGCTCCTACTTCAAGGATCGGGCCCACATC c.420
V S D V I W N S L S R S Y F K D R A H I p.140
. . . . | 03 . . g.8215
CAGTCCCTCTTCAGCTTCATCACAGGTTGGAGCCCAGTAG | GCACCAAATTGGACAGCTCC c.480
Q S L F S F I T G W S P V G | T K L D S S p.160
. . . . . . g.8275
GGTGTGGCCTTTGCTGTGGTTGGGGCCTGCCAGGCCCTGGGTCTCCGGGATGTCCACCTC c.540
G V A F A V V G A C Q A L G L R D V H L p.180
. . . . . . g.8335
GCCCTGTCTGAGGATCATGCCTGGGTAGTGTTTGGGCCCAATGGGGAGCAGACAGCTGAG c.600
A L S E D H A W V V F G P N G E Q T A E p.200
. . . . . . g.8395
GTCACCTGGCACGGCAAGGGCAACGAGGACCGCAGGGGCCAGACAGTCAATGCCGGTGTG c.660
V T W H G K G N E D R R G Q T V N A G V p.220
| 04 . . . . . g.8665
GCTGAGCGG | AGCTGGCTGTACCTGAAAGGATCATACATGCGCTGTGACCGCAAGATGGAG c.720
A E R | S W L Y L K G S Y M R C D R K M E p.240
. . . . . . g.8725
GTGGCGTTCATGGTGTGTGCCATCAACCCTTCCATTGACCTGCACACCGACTCGCTGGAG c.780
V A F M V C A I N P S I D L H T D S L E p.260
. | 05 . . . | 06 g.9197
CTTCTGCAGCTGCAGCAG | AAGCTGCTCTGGCTGCTCTATGACCTGGGACATCTGGAAAG | G c.840
L L Q L Q Q | K L L W L L Y D L G H L E R | p.280
. . . . . . g.9257
TACCCCATGGCCTTAGGGAACCTGGCAGATCTAGAGGAGCTGGAGCCCACCCCTGGCCGG c.900
Y P M A L G N L A D L E E L E P T P G R p.300
. . | 07. . . . g.9959
CCAGACCCACTCACCCTCTACCACAAG | GGCATTGCCTCAGCCAAGACCTACTATCGGGAT c.960
P D P L T L Y H K | G I A S A K T Y Y R D p.320
. . . . . . g.10019
GAACACATCTACCCCTACATGTACCTGGCTGGCTACCACTGTCGCAACCGCAATGTGCGG c.1020
E H I Y P Y M Y L A G Y H C R N R N V R p.340
. . . . | 08 . . g.10540
GAAGCCCTGCAGGCCTGGGCGGACACGGCCACTGTCATCCAGGA | CTACAACTACTGCCGG c.1080
E A L Q A W A D T A T V I Q D | Y N Y C R p.360
. . . . . . g.10600
GAAGACGAGGAGATCTACAAGGAGTTCTTTGAAGTAGCCAATGATGTCATCCCCAACCTG c.1140
E D E E I Y K E F F E V A N D V I P N L p.380
. . . . . . g.10660
CTGAAGGAGGCAGCCAGCTTGCTGGAGGCGGGCGAGGAGCGGCCGGGGGAGCAAAGCCAG c.1200
L K E A A S L L E A G E E R P G E Q S Q p.400
| 09 . . . . . . g.11156
| GGCACCCAGAGCCAAGGTTCCGCCCTCCAGGACCCTGAGTGCTTCGCCCACCTGCTGCGA c.1260
| G T Q S Q G S A L Q D P E C F A H L L R p.420
. . . . . . g.11216
TTCTACGACGGCATCTGCAAATGGGAGGAGGGCAGTCCCACGCCTGTGCTGCACGTGGGC c.1320
F Y D G I C K W E E G S P T P V L H V G p.440
. . . . | 10 . . g.11493
TGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAG | GTGCGGCAGAAGGTG c.1380
W A T F L V Q S L G R F E G Q | V R Q K V p.460
. . . . . . g.11553
CGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCC c.1440
R I V S R E A E A A E A E E P W G E E A p.480
. . . . . . g.11613
CGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCC c.1500
R E G R R R G P R R E S K P E E P P P P p.500
. . . . . . g.11673
AAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCC c.1560
K K P A L D K G L G T G Q G A V S G P P p.520
. . . . . . g.11733
CGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCT c.1620
R K P P G T V A G T A R G P E G G S T A p.540
. . . . . . g.11793
CAGGTGCCAGCACCCGCAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGT c.1680
Q V P A P A A S P P P E G P V L T F Q S p.560
. . . . . . g.11853
GAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATC c.1740
E K M K G M K E L L V A T K I N S S A I p.580
. . . . . . g.11913
AAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCT c.1800
K L Q L T A Q S Q V Q M K K Q K V S T P p.600
. . . . g.11961
AGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGA c.1848
S D Y T L S F L K R Q R K G L X p.615
. . . . . . g.12021
actactggggacttcggaccgcttgtggggacccaggctccgcccttagtcccccaactc c.*60
. . . . . . g.12081
tgagcccatgttctgcccccagcccaaaggggacaggcctcacctctacccaaaccctag c.*120
. . . . . . g.12141
gttcccggtcccgagtacagtctgtatcaaacccacgattttctccagctcagaacccag c.*180
. . . . . . g.12201
ggctctgccccagtcgttagaatataggtctcttctcccagaatcccagccggccaatgg c.*240
. . . . . . g.12261
aaacctcacgctgggtcctaattaccagtctttaaaggcccagcccctagaaacccaagc c.*300
. . . . . . g.12321
tcctcctcggaaccgctcacctagagccagaccaacgttactcagggctcctcccagctt c.*360
. . . . . . g.12381
gtaggagctgaggtttcacccttaacccaaggagcacaggtcccacctccagcccgggag c.*420
. . . . . . g.12441
cctaggaccactcagcccctaggagtatatttccgcacttcagaattccatatcttgcga c.*480
. . . . . . g.12501
atccaagctccctgccccaaataacttcagtcctgctccagaatttggaaatcctagttt c.*540
. . . . . . g.12561
cctctccttcgtatcccgagtctgggacacaaaactccgcccccagcctatgagcatcct c.*600
. . . . . . g.12621
gagccccgccctcttcctgacgaaactggccccggatcagagcaggacctcccttccgac c.*660
. . . . . . g.12681
cctctgggaacctcccagaggtccagcccatctcggagcatcccggaggaaatctgcaga c.*720
. . . . . . g.12741
gggttaggagtgggtgacaagagcctgatctcttcctgttttgtacatagatttattttt c.*780
. . . . g.12781
cagttccaagaaagatgaatacattttgttaaaaaaaata c.*820
(downstream sequence)
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