(used for variant description)
(last modified November 16, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000253.2 in the MTTP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011469.1, covering MTTP transcript NM_000253.2.
(upstream sequence)
. g.5016
tttcgaacccgcaatg c.-241
. . . . . . g.5076
gaagaaaggggaggggtttatgcggggcggggtctggagttagtgttttgggagtgggag c.-181
. . . . . . g.5136
gtagttacagtgatgtctgttttttcccgttcaagaattaagtgtgtacctgcagacgtg c.-121
. . | 02 . . . g.15767
tattcattcatatattctt | gttctgaagagggtcactccctcactggctgccattgaaag c.-61
. . . . . . g.15827
agtccacttctcagtgactcctagctgggcactggatgcagttgaggattgctggtcaat c.-1
. . . . . . g.15887
ATGATTCTTCTTGCTGTGCTTTTTCTCTGCTTCATTTCCTCATATTCAGCTTCTGTTAAA c.60
M I L L A V L F L C F I S S Y S A S V K p.20
| 03 . . . . . . g.22881
G | GTCACACAACTGGTCTCTCATTAAATAATGACCGGCTGTACAAGCTCACGTACTCCACT c.120
G | H T T G L S L N N D R L Y K L T Y S T p.40
. . . . . . g.22941
GAAGTTCTTCTTGATCGGGGCAAAGGAAAACTGCAAGACAGCGTGGGCTACCGCATTTCC c.180
E V L L D R G K G K L Q D S V G Y R I S p.60
. . . . . . g.23001
TCCAACGTGGATGTGGCCTTACTATGGAGGAATCCTGATGGTGATGATGACCAGTTGATC c.240
S N V D V A L L W R N P D G D D D Q L I p.80
| 04 . . . . . g.24342
CAAATAACG | ATGAAGGATGTAAATGTTGAAAATGTGAATCAGCAGAGAGGAGAGAAGAGC c.300
Q I T | M K D V N V E N V N Q Q R G E K S p.100
. . . . . . g.24402
ATCTTCAAAGGAAAAAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAA c.360
I F K G K S P S K I M G K E N L E A L Q p.120
. . . | 05 . . . g.30587
AGACCTACGCTCCTTCATCTAATCCATGGAAAG | GTCAAAGAGTTCTACTCATATCAAAAT c.420
R P T L L H L I H G K | V K E F Y S Y Q N p.140
. . . . . . g.30647
GAGGCAGTGGCCATAGAAAATATCAAGAGAGGTCTGGCTAGCCTATTTCAGACACAGTTA c.480
E A V A I E N I K R G L A S L F Q T Q L p.160
. . | 06 . . . . g.32191
AGCTCTGGAACCACCAATGAG | GTAGATATCTCTGGAAATTGTAAAGTGACCTACCAGGCT c.540
S S G T T N E | V D I S G N C K V T Y Q A p.180
. . . . . . g.32251
CATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCTGGA c.600
H Q D K V I K I K A L D S C K I A R S G p.200
. | 07 . . . . g.32610
TTTACGACCCCAAATCAG | GTCTTGGGTGTCAGTTCAAAAGCTACATCTGTCACCACCTAT c.660
F T T P N Q | V L G V S S K A T S V T T Y p.220
. . . . . . g.32670
AAGATAGAAGACAGCTTTGTTATAGCTGTGCTTGCTGAAGAAACACACAATTTTGGACTG c.720
K I E D S F V I A V L A E E T H N F G L p.240
. . . | 08 . . g.35672
AATTTCCTACAAACCATTAAGGGGAAAATAGTATCGAA | GCAGAAATTAGAGCTGAAGACA c.780
N F L Q T I K G K I V S K | Q K L E L K T p.260
. . . . . . g.35732
ACCGAAGCAGGCCCAAGATTGATGTCTGGAAAGCAGGCTGCAGCCATAATCAAAGCAGTT c.840
T E A G P R L M S G K Q A A A I I K A V p.280
. . . . . . g.35792
GATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCACTGTAAAGGA c.900
D S K Y T A I P I V G Q V F Q S H C K G p.300
| 09 . . . . . g.38035
TGTCCTTCT | CTCTCGGAGCTCTGGCGGTCCACCAGGAAATACCTGCAGCCTGACAACCTT c.960
C P S | L S E L W R S T R K Y L Q P D N L p.320
. . . . . . g.38095
TCCAAGGCTGAGGCTGTCAGAAACTTCCTGGCCTTCATTCAGCACCTCAGGACTGCGAAG c.1020
S K A E A V R N F L A F I Q H L R T A K p.340
. . . . | 10. . g.41495
AAAGAAGAGATCCTTCAAATACTAAAGATGGAAAATAAGGAAGTATT | ACCTCAGCTGGTG c.1080
K E E I L Q I L K M E N K E V L | P Q L V p.360
. . . . . . g.41555
GATGCTGTCACCTCTGCTCAGACCTCAGACTCATTAGAAGCCATTTTGGACTTTTTGGAT c.1140
D A V T S A Q T S D S L E A I L D F L D p.380
. . . . . . g.41615
TTCAAAAGTGACAGCAGCATTATCCTCCAGGAGAGGTTTCTCTATGCCTGTGGATTTGCT c.1200
F K S D S S I I L Q E R F L Y A C G F A p.400
. . . | 11 . . . g.42548
TCTCATCCCAATGAAGAACTCCTGAGAGCCCTCATT | AGTAAGTTCAAAGGTTCTATTGGT c.1260
S H P N E E L L R A L I | S K F K G S I G p.420
. . . . . . g.42608
AGCAGTGACATCAGAGAAACTGTTATGATCATCACTGGGACACTTGTCAGAAAGTTGTGT c.1320
S S D I R E T V M I I T G T L V R K L C p.440
. . | 12 . . . . g.47701
CAGAATGAAGGCTGCAAACTCAAA | GCAGTAGTGGAAGCTAAGAAGTTAATCCTGGGAGGA c.1380
Q N E G C K L K | A V V E A K K L I L G G p.460
. . . . . . g.47761
CTTGAAAAAGCAGAGAAAAAAGAGGACACCAGGATGTATCTGCTGGCTTTGAAGAATGCC c.1440
L E K A E K K E D T R M Y L L A L K N A p.480
. . . . . . g.47821
CTGCTTCCAGAAGGCATCCCAAGTCTTCTGAAGTATGCAGAAGCAGGAGAAGGGCCCATC c.1500
L L P E G I P S L L K Y A E A G E G P I p.500
. . . . . | 13. g.49686
AGCCACCTGGCTACCACTGCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAG | GTG c.1560
S H L A T T A L Q R Y D L P F I T D E | V p.520
. . . . . . g.49746
AAGAAGACCTTAAACAGAATATACCACCAAAACCGTAAAGTTCATGAAAAGACTGTGCGC c.1620
K K T L N R I Y H Q N R K V H E K T V R p.540
. . . . . . g.49806
ACTGCTGCAGCTGCTATCATTTTAAATAACAATCCATCCTACATGGACGTCAAGAACATC c.1680
T A A A A I I L N N N P S Y M D V K N I p.560
. . . . . . g.49866
CTGCTGTCTATTGGGGAGCTTCCCCAAGAAATGAATAAATACATGCTCGCCATTGTTCAA c.1740
L L S I G E L P Q E M N K Y M L A I V Q p.580
. . | 14 . . . g.52091
GACATCCTACGTTTTGAAATGCCTGCAAG | CAAAATTGTCCGTCGAGTTCTGAAGGAAATG c.1800
D I L R F E M P A S | K I V R R V L K E M p.600
. . . . . . g.52151
GTCGCTCACAATTATGACCGTTTCTCCAGGAGTGGATCTTCTTCTGCCTACACTGGCTAC c.1860
V A H N Y D R F S R S G S S S A Y T G Y p.620
| 15. . . . . . g.52302
ATAGAAC | GTAGTCCCCGTTCGGCATCTACTTACAGCCTAGACATTCTCTACTCGGGTTCT c.1920
I E R | S P R S A S T Y S L D I L Y S G S p.640
. . . . . . g.52362
GGCATTCTAAGGAGAAGTAACCTGAACATCTTTCAGTACATTGGGAAGGCTGGTCTTCAC c.1980
G I L R R S N L N I F Q Y I G K A G L H p.660
| 16 . . . . . g.53881
GGTAGCCAG | GTGGTTATTGAAGCCCAAGGACTGGAAGCCTTAATCGCAGCCACCCCTGAC c.2040
G S Q | V V I E A Q G L E A L I A A T P D p.680
. . . . . . g.53941
GAGGGGGAGGAGAACCTTGACTCCTATGCTGGTATGTCAGCCATCCTCTTTGATGTTCAG c.2100
E G E E N L D S Y A G M S A I L F D V Q p.700
. . . . . . g.54001
CTCAGACCTGTCACCTTTTTCAACGGATACAGTGATTTGATGTCCAAAATGCTGTCAGCA c.2160
L R P V T F F N G Y S D L M S K M L S A p.720
. . . . . | 17. g.59894
TCTGGCGACCCTATCAGTGTGGTGAAAGGACTTATTCTGCTAATAGATCATTCTCAG | GAA c.2220
S G D P I S V V K G L I L L I D H S Q | E p.740
. . . . . . g.59954
CTTCAGTTACAATCTGGACTAAAAGCCAATATAGAGGTCCAGGGTGGTCTAGCTATTGAT c.2280
L Q L Q S G L K A N I E V Q G G L A I D p.760
. . . . . . g.60014
ATTTCAGGTGCAATGGAGTTTAGCTTGTGGTATCGTGAGTCTAAAACCCGAGTGAAAAAT c.2340
I S G A M E F S L W Y R E S K T R V K N p.780
| 18 . . . . . . g.62036
AG | GGTGACTGTGGTAATAACCACTGACATCACAGTGGACTCCTCTTTTGTGAAAGCTGGC c.2400
R | V T V V I T T D I T V D S S F V K A G p.800
. . . . . . g.62096
CTGGAAACCAGTACAGAAACAGAAGCAGGCTTGGAGTTTATCTCCACAGTGCAGTTTTCT c.2460
L E T S T E T E A G L E F I S T V Q F S p.820
. . . . . | 19 . g.63601
CAGTACCCATTCTTAGTTTGCATGCAGATGGACAAGGATGAAGCTCCATTCAG | GCAATTT c.2520
Q Y P F L V C M Q M D K D E A P F R | Q F p.840
. . . . . . g.63661
GAGAAAAAGTACGAAAGGCTGTCCACAGGCAGAGGTTATGTCTCTCAGAAAAGAAAAGAA c.2580
E K K Y E R L S T G R G Y V S Q K R K E p.860
. . . . . . g.63721
AGCGTATTAGCAGGATGTGAATTCCCGCTCCATCAAGAGAACTCAGAGATGTGCAAAGTG c.2640
S V L A G C E F P L H Q E N S E M C K V p.880
. . . . g.63766
GTGTTTGCCCCTCAGCCGGATAGTACTTCCAGCGGATGGTTTTGA c.2685
V F A P Q P D S T S S G W F X p.894
. . . . . . g.63826
aactgacctgtgatattttacttgaatttgtctccccgaaagggacacaatgtggcatga c.*60
. . . . . . g.63886
ctaagtacttgctctctgagagcacagcgtttacatatttacctgtatttaagatttttg c.*120
. . . . . . g.63946
taaaaagctacaaaaaactgcagtttgatcaaatttgggtatatgcagtatgctacccac c.*180
. . . . . . g.64006
agcgtcattttgaatcatcatgtgacgctttcaacaacgttcttagtttacttatacctc c.*240
. . . . . . g.64066
tctcaaatctcatttggtacagtcagaatagttattctctaagaggaaactagtgtttgt c.*300
. . . . . . g.64126
taaaaacaaaaataaaaacaaaaccacacaaggagaacccaattttgtttcaacaatttt c.*360
. . . . . . g.64186
tgatcaatgtatatgaagctcttgataggacttccttaagcatgacgggaaaaccaaaca c.*420
. . . . . . g.64246
cgttccctaatcaggaaaaaaaaaaaaaaaaaaagtaagacacaaacaaaccattttttt c.*480
. . . . . . g.64306
tctctttttttggagttgggggcccagggagaagggacaagacttttaaaagacttgtta c.*540
. . . . . . g.64366
gccaacttcaagaattaatatttatgtctctgttattgttagttttaagccttaaggtag c.*600
. . . . . . g.64426
aaggcacatagaaataacatctcatctttctgctgaccattttagtgaggttgttccaaa c.*660
. . . . . . g.64486
gacattcaggtctctacctccagccctgcaaaaatattggacctagcacagaggaatcag c.*720
. . . . . . g.64546
gaaaattaatttcagaaactccatttgatttttcttttgctgtgtctttttgagactgta c.*780
. . . . . . g.64606
atatggtacactgtcctctaagggacatcctcattttatctcacctttttgggggtgaga c.*840
. . . . . . g.64666
gctctagttcatttaactgtactctgcacaatagctaggatgactaagagaacattgctt c.*900
. . . . . . g.64726
caagaaactggtggatttggatttccaaaatatgaaataaggaaaaaaatgtttttattt c.*960
. . . . . . g.64786
gtatgaattaaaagatccatgttgaacatttgcaaatatttattaataaacagatgtggt c.*1020
. . . . . . g.64846
gataaacccaaaacaaatgacaggtccttattttccactaaacacagacacatgaaatga c.*1080
. . . . . . g.64906
aagtttagctagcccactatttgttgtaaattgaaaacgaagtgtgataaaataaatatg c.*1140
g.64915
tagaaatca c.*1149
(downstream sequence)
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