(used for variant description)
(last modified September 29, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000902.3 in the MME gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering MME transcript NM_000902.3.
(upstream sequence)
. . . . . . g.5060
gagagcgccgagacgcgcggggcgcggagatgtgcaagtggcgaagcttgaccgagagca c.-61
. . . . . | 02 g.9521
ggctggagcagccgcccaactcctggcgcgggatctgctgaggggtcacg | attttaggtg c.-1
. . . . . . g.9581
ATGGGCAAGTCAGAAAGTCAGATGGATATAACTGATATCAACACTCCAAAGCCAAAGAAG c.60
M G K S E S Q M D I T D I N T P K P K K p.20
. . . . . . g.9641
AAACAGCGATGGACTCCACTGGAGATCAGCCTCTCGGTCCTTGTCCTGCTCCTCACCATC c.120
K Q R W T P L E I S L S V L V L L L T I p.40
. . . . | 03 . . g.10432
ATAGCTGTGACAATGATCGCACTCTATGCAACCTACGATG | ATGGTATTTGCAAGTCATCA c.180
I A V T M I A L Y A T Y D D | G I C K S S p.60
. | 04 . . . . . g.40391
GACTGCATAAAATCAG | CTGCTCGACTGATCCAAAACATGGATGCCACCACTGAGCCTTGT c.240
D C I K S A | A R L I Q N M D A T T E P C p.80
. . . . . . g.40451
ACAGACTTTTTCAAATATGCTTGCGGAGGCTGGTTGAAACGTAATGTCATTCCCGAGACC c.300
T D F F K Y A C G G W L K R N V I P E T p.100
. . . . . | 05 g.41834
AGCTCCCGTTACGGCAACTTTGACATTTTAAGAGATGAACTAGAAGTCGTTTTGAAAG | AT c.360
S S R Y G N F D I L R D E L E V V L K D | p.120
. . . . . . g.41894
GTCCTTCAAGAACCCAAAACTGAAGATATAGTAGCAGTGCAGAAAGCAAAAGCATTGTAC c.420
V L Q E P K T E D I V A V Q K A K A L Y p.140
. | 06 . . . . g.42058
AGGTCTTGTATAAATGAAT | CTGCTATTGATAGCAGAGGTGGAGAACCTCTACTCAAACTG c.480
R S C I N E S | A I D S R G G E P L L K L p.160
. . . . . | 07 . g.42226
TTACCAGACATATATGGGTGGCCAGTAGCAACAGAAAACTGGGAGCAAAAATATG | GTGCT c.540
L P D I Y G W P V A T E N W E Q K Y G | A p.180
. . . . . . g.42286
TCTTGGACAGCTGAAAAAGCTATTGCACAACTGAATTCTAAATATGGGAAAAAAGTCCTT c.600
S W T A E K A I A Q L N S K Y G K K V L p.200
. . . . . | 08 . g.44105
ATTAATTTGTTTGTTGGCACTGATGATAAGAATTCTGTGAATCATGTAATTCAT | ATTGAC c.660
I N L F V G T D D K N S V N H V I H | I D p.220
. . . . . . g.44165
CAACCTCGACTTGGCCTCCCTTCTAGAGATTACTATGAATGCACTGGAATCTATAAAGAG c.720
Q P R L G L P S R D Y Y E C T G I Y K E p.240
| 09 . . . . . . g.63515
| GCTTGTACAGCATATGTGGATTTTATGATTTCTGTGGCCAGATTGATTCGTCAGGAAGAA c.780
| A C T A Y V D F M I S V A R L I R Q E E p.260
. . . . . . g.63575
AGATTGCCCATCGATGAAAACCAGCTTGCTTTGGAAATGAATAAAGTTATGGAATTGGAA c.840
R L P I D E N Q L A L E M N K V M E L E p.280
. | 10 . . . . . g.65589
AAAGAAATTGCCAAT | GCTACGGCTAAACCTGAAGATCGAAATGATCCAATGCTTCTGTAT c.900
K E I A N | A T A K P E D R N D P M L L Y p.300
. . . . . | 11. g.67347
AACAAGATGACATTGGCCCAGATCCAAAATAACTTTTCACTAGAGATCAATGGGAAG | CCA c.960
N K M T L A Q I Q N N F S L E I N G K | P p.320
. . . . . . g.67407
TTCAGCTGGTTGAATTTCACAAATGAAATCATGTCAACTGTGAATATTAGTATTACAAAT c.1020
F S W L N F T N E I M S T V N I S I T N p.340
. . . . . . g.67467
GAGGAAGATGTGGTTGTTTATGCTCCAGAATATTTAACCAAACTTAAGCCCATTCTTACC c.1080
E E D V V V Y A P E Y L T K L K P I L T p.360
. | 12 . . . . . g.67636
AAATATTCTGCCAG | AGATCTTCAAAATTTAATGTCCTGGAGATTCATAATGGATCTTGTA c.1140
K Y S A R | D L Q N L M S W R F I M D L V p.380
. . . . | 13 . g.68808
AGCAGCCTCAGCCGAACCTACAAGGAGTCCAGAAATGCTTTCCGCAAG | GCCCTTTATGGT c.1200
S S L S R T Y K E S R N A F R K | A L Y G p.400
. . . . . . g.68868
ACAACCTCAGAAACAGCAACTTGGAGACGTTGTGCAAACTATGTCAATGGGAATATGGAA c.1260
T T S E T A T W R R C A N Y V N G N M E p.420
. . . . . | 14. g.69715
AATGCTGTGGGGAGGCTTTATGTGGAAGCAGCATTTGCTGGAGAGAGTAAACATGTG | GTC c.1320
N A V G R L Y V E A A F A G E S K H V | V p.440
. . . . . . g.69775
GAGGATTTGATTGCACAGATCCGAGAAGTTTTTATTCAGACTTTAGATGACCTCACTTGG c.1380
E D L I A Q I R E V F I Q T L D D L T W p.460
. . . | 15 . . . g.72521
ATGGATGCCGAGACAAAAAAGAGAGCTGAAGAAAAG | GCCTTAGCAATTAAAGAAAGGATC c.1440
M D A E T K K R A E E K | A L A I K E R I p.480
. . . . . | 16. g.73906
GGCTATCCTGATGACATTGTTTCAAATGATAACAAACTGAATAATGAGTACCTCGAG | TTG c.1500
G Y P D D I V S N D N K L N N E Y L E | L p.500
. . . . . . g.73966
AACTACAAAGAAGATGAATACTTCGAGAACATAATTCAAAATTTGAAATTCAGCCAAAGT c.1560
N Y K E D E Y F E N I I Q N L K F S Q S p.520
. . . . | 17 . . g.85762
AAACAACTGAAGAAGCTCCGAGAAAAGGTGGACAAAGATGA | GTGGATAAGTGGAGCAGCT c.1620
K Q L K K L R E K V D K D E | W I S G A A p.540
. . . . | 18 . . g.92275
GTAGTCAATGCATTTTACTCTTCAGGAAGAAATCAGATAG | TCTTCCCAGCCGGCATTCTG c.1680
V V N A F Y S S G R N Q I V | F P A G I L p.560
. . . . . . g.92335
CAGCCCCCCTTCTTTAGTGCCCAGCAGTCCAACTCATTGAACTATGGGGGCATCGGCATG c.1740
Q P P F F S A Q Q S N S L N Y G G I G M p.580
. . . . | 19 . . g.93865
GTCATAGGACACGAAATCACCCATGGCTTCGATGACAATG | GCAGAAACTTTAACAAAGAT c.1800
V I G H E I T H G F D D N G | R N F N K D p.600
. . . . . . g.93925
GGAGACCTCGTTGACTGGTGGACTCAACAGTCTGCAAGTAACTTTAAGGAGCAATCCCAG c.1860
G D L V D W W T Q Q S A S N F K E Q S Q p.620
. . . . . | 20 . g.94091
TGCATGGTGTATCAGTATGGAAACTTTTCCTGGGACCTGGCAGGTGGACAGCAC | CTTAAT c.1920
C M V Y Q Y G N F S W D L A G G Q H | L N p.640
. . . . . . g.94151
GGAATTAATACACTGGGAGAAAACATTGCTGATAATGGAGGTCTTGGTCAAGCATACAGA c.1980
G I N T L G E N I A D N G G L G Q A Y R p.660
| 21 . . . . . . g.97530
| GCCTATCAGAATTATATTAAAAAGAATGGCGAAGAAAAATTACTTCCTGGACTTGACCTA c.2040
| A Y Q N Y I K K N G E E K L L P G L D L p.680
. . . | 22 . . . g.97913
AATCACAAACAACTATTTTTCTTGAACTTTGCACAG | GTGTGGTGTGGAACCTATAGGCCA c.2100
N H K Q L F F L N F A Q | V W C G T Y R P p.700
. . . . . | 23 . g.105720
GAGTATGCGGTTAACTCCATTAAAACAGATGTGCACAGTCCAGGCAATTTCAG | GATTATT c.2160
E Y A V N S I K T D V H S P G N F R | I I p.720
. . . . . . g.105780
GGGACTTTGCAGAACTCTGCAGAGTTTTCAGAAGCCTTTCACTGCCGCAAGAATTCATAC c.2220
G T L Q N S A E F S E A F H C R K N S Y p.740
. . . g.105813
ATGAATCCAGAAAAGAAGTGCCGGGTTTGGTGA c.2253
M N P E K K C R V W X p.750
. . . . . . g.105873
tcttcaaaagaagcattgcagcccttggctagacttgccaacaccacagaaatggggaat c.*60
. . . . . . g.105933
tctctaatcgaaagaaaatgggccctaggggtcactgtactgacttgagggtgattaaca c.*120
. . . . . . g.105993
gagagggcaccatcacaatacagataacattaggttgtcctagaaagggtgtggagggag c.*180
. . . . . . g.106053
gaagggggtctaaggtctatcaagtcaatcatttctcactgtgtacataatgcttaattt c.*240
. . . . . . g.106113
ctaaagataatattactgtttatttctgtttctcatatggtctaccagtttgctgatgtc c.*300
. . . . . . g.106173
cctagaaaacaatgcaaaacctttgaggtagaccaggatttctaatcaaaagggaaaaga c.*360
. . . . . . g.106233
agatgttgaagaatacagttaggcaccagaagaacagtaggtgacactatagtttaaaac c.*420
. . . . . . g.106293
acattgcctaactactagtttttacttttatttgcaacatttacagtccttcaaaatcct c.*480
. . . . . . g.106353
tccaaagaattcttatacacattggggccttggagcttacatagttttaaactcattttt c.*540
. . . . . . g.106413
gccatacatcagttattcattctgtgatcatttattttaagcactcttaaagcaaaaaat c.*600
. . . . . . g.106473
gaatgtctaaaattgttttttgttgtacctgctttgactgatgctgagattcttcaggct c.*660
. . . . . . g.106533
tcctgcaattttctaagcaatttcttgctctatctctcaaaacttggtatttttcagaga c.*720
. . . . . . g.106593
tttatataaatgtaaaaataataatttttatatttaattattaactacatttatgagtaa c.*780
. . . . . . g.106653
ctattattataggtaatcaatgaatattgaagtttcagcttaaaataaacagttgtgaac c.*840
. . . . . . g.106713
caagatctataaagcgatatacagatgaaaatttgagactatttaaacttataaatcata c.*900
. . . . . . g.106773
ttgatgaaaagatttaagcacaaactttagggtaaaaattgccattggacagttgtctag c.*960
. . . . . . g.106833
agatatatatacttgtggttttcaaattggactttcaaaattaaatctgtccctgagagt c.*1020
. . . . . . g.106893
gtctctgataaaagggcaaatctgcacctatgtagctctgcatctcctgtcttttcaggt c.*1080
. . . . . . g.106953
ttgtcatcagatggaaatattttgataataaattgaaattgtgaactcattgctccctaa c.*1140
. . . . . . g.107013
gactgtgacaactgtctaactttagaagtgcatttctgaatagaaatgggaggcctctga c.*1200
. . . . . . g.107073
tggaccttctagaattataagtcacaaagagttctggaaaagaactgtttactgcttgat c.*1260
. . . . . . g.107133
aggaattcatcttttgaggcttctgttcctctcttttcctgttgtattgactattttcgt c.*1320
. . . . . . g.107193
tcattacttgattaagattttacaaaagaggagcacttccaaaattcttatttttcctaa c.*1380
. . . . . . g.107253
caaaagatgaaagcagggaatttctatctaaatgatgagtattagttccctgtctcttga c.*1440
. . . . . . g.107313
aaaatgcccatttgcctttaaaaaaaaaagttacagaaatactataacatatgtacataa c.*1500
. . . . . . g.107373
attgcataaagcataagtatacagttcaataaacttaactttaactgaacaatggccctg c.*1560
. . . . . . g.107433
tagccagcacctgtaagaaacagagcagtaccagcgctctaaaagcacctccttgtcact c.*1620
. . . . . . g.107493
ttattactcccagaacaacaactatcctgacttctaatatcattcactagctttgcctgg c.*1680
. . . . . . g.107553
ttttgtcttttatgcagatagaatcaatcagtatgtattcttttgtgcctggcttctttc c.*1740
. . . . . . g.107613
tctcagccttacatttgtgagattcctctgtattgtgctgattgtggatcttttcattct c.*1800
. . . . . . g.107673
cattgcagaataatgttctattgtgggacttattacaatttgttcatcctattgttgatg c.*1860
. . . . . . g.107733
ggcacttgagaactttccattttggcgctattacaaatagtgcaactatgaatgtactgc c.*1920
. . . . . . g.107793
atgttaccatcttacttgagcctttaatggacttatttcttcaaatccttccaaaaatta c.*1980
. . . . . . g.107853
ttataagcattgaaattatagtttcaagccaactgtggatacccttaccctttcctcctt c.*2040
. . . . . . g.107913
tatcacaaccaccgttacaagtatacttatatttccctaaaatacatttaaaacttacct c.*2100
. . . . . . g.107973
aagtgacatttgtagttggagtaataggagcttccagctctaataaaacagctgtctcta c.*2160
. . . . . . g.108033
acttattttatttccatcatgtcagagcaggtgaagagccagaagtgaagagtgactagt c.*2220
. . . . . . g.108093
acaaattataaaaagccactagactcttcactgttagctttttaaaacattaggctccca c.*2280
. . . . . . g.108153
tccctatggaggaacaactctccagtgcctggatcccctctgtctacaaatataagattt c.*2340
. . . . . . g.108213
tctgggcctaaaggatagatcaaagtcaaaaatagcaatgcctccctatccctcacacat c.*2400
. . . . . . g.108273
ccagacatcatgaattttacatggtactcttgttgagttctgtagagccttctgatgtct c.*2460
. . . . . . g.108333
ctaaagcactaccgattctttggagttgtcacatcagataagacatatctctaattccat c.*2520
. . . . . . g.108393
ccataaatccagttctactatggctgagttctggtcaaagaaagaaagtttagaagctga c.*2580
. . . . . . g.108453
gacacaaagggttgggagctgatgaaactcacaaatgatggtaggaagaagctctcgaca c.*2640
. . . . . . g.108513
atacccgttggcaaggagtctgcctccatgctgcagtgttcgagtggattgtaggtgcaa c.*2700
. . . . . . g.108573
gatggaaaggattgtaggtgcaagctgtccagagaaaagagtccttgttccagccctatt c.*2760
. . . . . . g.108633
ctgccactcctgacagggtgaccttgggtatttgcaatattcctttgggcctctgcttct c.*2820
. . . . . . g.108693
ctcacctaaaaaaagagaattagattatattggtggttctcagcaagagaaggagtatgt c.*2880
. . . . . . g.108753
gtccaatgctgccttcccatgaatctgtctcccagttatgaatcagtgggcaggataaac c.*2940
. . . . . . g.108813
tgaaaactcccatttacgtgtctgaatcgagtgagacaaaattttagtccaaataacaag c.*3000
. . . . . . g.108873
taccaaagttttatcaagtttgggtctgtgctgctgttactgttaaccatttaagtgggg c.*3060
. . . . . . g.108933
caaaaccttgctaattttctcaaaagcatttatcattcttgttgccacagctggagctct c.*3120
. . . . . . g.108993
caaactaaaagacatttgttattttggaaagaagaaagactctattctcaaagtttccta c.*3180
. . . . . . g.109053
atcagaaatttttatcagtttccagtctcaaaaatacaaaataaaaacaaacgtttttaa c.*3240
. . . g.109083
tactattgcttttatgcctagtcaactctg c.*3270
(downstream sequence)
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