(used for mutation description)
(last modified May 30, 2010)
This file was created to facilitate the description of sequence variants in the MTMR14 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017068.1, covering MTMR14 transcript NM_001077525.2.
(upstream sequence)
. . . g.5031
aaacatccggcgggacggggcggggccggaa c.-121
. . . . . . g.5091
gtggaagtggaagtagaaggcggtggctgaggcggttccggaggttctagtgtcggagtt c.-61
. . . . . . g.5151
gggtgcaggcaggtgccatgggcccgcttgaggcacactgaggggacgcggggctgggcc c.-1
. . . . . . g.5211
ATGGCCGGCGCTCGGGCCGCCGCCGCCGCTGCCTCGGCGGGGTCCTCGGCCTCTTCAGGC c.60
M A G A R A A A A A A S A G S S A S S G p.20
. . . . . . g.5271
AACCAGCCGCCTCAGGAGCTGGGGCTTGGGGAGCTGCTGGAGGAGTTCTCCCGGACTCAG c.120
N Q P P Q E L G L G E L L E E F S R T Q p.40
. . . | 02 . . g.9209
TACCGGGCCAAGGATGGCAGCGGGACCGGCGGCTCTAAG | GTTGAGCGCATTGAGAAGAGA c.180
Y R A K D G S G T G G S K | V E R I E K R p.60
. . . . . . g.9269
TGTCTGGAGCTGTTTGGCCGAGACTACTGTTTCAGCGTGATTCCAAACACGAATGGGGAT c.240
C L E L F G R D Y C F S V I P N T N G D p.80
. . . . . . g.9329
ATCTGTGGCCACTATCCCCGGCACATCGTGTTCCTGGAGTATGAGAGTTCTGAGAAGGAG c.300
I C G H Y P R H I V F L E Y E S S E K E p.100
| 03 . . . . . g.17886
AAAGACAC | GTTTGAGAGTACCGTACAGGTGAGCAAGTTGCAAGACCTCATCCACCGCAGC c.360
K D T | F E S T V Q V S K L Q D L I H R S p.120
. . . . . | 04. g.24289
AAGATGGCCCGGTGCAGAGGACGGTTTGTCTGCCCAGTAATCCTGTTCAAGGGCAAG | CAC c.420
K M A R C R G R F V C P V I L F K G K | H p.140
. . . . . . g.24349
ATTTGCAGGTCGGCCACACTGGCTGGATGGGGAGAGCTGTATGGACGCTCAGGCTACAAC c.480
I C R S A T L A G W G E L Y G R S G Y N p.160
. | 05 . . . . . g.25046
TATTTTTTCTCAG | GGGGTGCAGATGATGCCTGGGCAGATGTGGAGGACGTCACGGAGGAG c.540
Y F F S G | G A D D A W A D V E D V T E E p.180
. | 06 . . . . . g.26661
GACTGTGCTCTTCG | AAGTGGTGACACGCATCTTTTTGATAAGGTCAGAGGCTATGACATC c.600
D C A L R | S G D T H L F D K V R G Y D I p.200
. . . . . . g.26721
AAGCTGCTTCGATACCTGTCAGTCAAATACATCTGTGACCTGATGGTGGAGAACAAGAAG c.660
K L L R Y L S V K Y I C D L M V E N K K p.220
. | 07. . . . . g.28295
GTGAAGTTTGGCATGAA | TGTAACCTCCTCTGAGAAGGTGGACAAAGCCCAGCGCTATGCC c.720
V K F G M N | V T S S E K V D K A Q R Y A p.240
. . . | 08 . . . g.32913
GACTTCACTCTCCTCTCCATCCCGTATCCAG | GCTGTGAATTTTTCAAGGAATATAAAGAT c.780
D F T L L S I P Y P G | C E F F K E Y K D p.260
. . . . | 09 . . g.33569
CGGGATTACATGGCAGAAGGGCTCATATTTAACTGGAAGCAG | GACTACGTTGATGCCCCA c.840
R D Y M A E G L I F N W K Q | D Y V D A P p.280
. . . . . | 10. g.38748
TTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAG | TGT c.900
L S I P D F L T H S L N I D W S Q Y Q | C p.300
. . . . . . g.38808
TGGGATCTGGTGCAACAAACACAAAACTACCTGAAGCTGCTGCTTTCCTTAGTTAACAGT c.960
W D L V Q Q T Q N Y L K L L L S L V N S p.320
| 11 . . . . . . g.40208
GATG | ATGACAGCGGGCTGCTGGTACACTGTATCTCAGGCTGGGATCGGACCCCCCTCTTC c.1020
D D | D S G L L V H C I S G W D R T P L F p.340
. . . | 12 . . . g.40485
ATCTCCCTCCTGCGCCTTTCCTTGTGGGCT | GATGGGCTCATCCACACGTCCCTGAAGCCC c.1080
I S L L R L S L W A | D G L I H T S L K P p.360
. . . . | 13. . g.40791
ACTGAGATCCTCTACCTCACTGTGGCCTATGACTGGTTCCTCTTCGG | GCACATGTTGGTA c.1140
T E I L Y L T V A Y D W F L F G | H M L V p.380
. . | 14 . . . . g.43424
GATCGGCTCAGCAAAGGGGAGGAG | ATTTTCTTCTTCTGCTTCAATTTTTTGAAGCATATT c.1200
D R L S K G E E | I F F F C F N F L K H I p.400
. . . | 15 . . . g.44288
ACCTCCGAGGAGTTCTCTGCTCTGAAGACCCAGAG | GAGGAAGAGTTTGCCAGCCCGGGAT c.1260
T S E E F S A L K T Q R | R K S L P A R D p.420
. . . | 16 . . . g.44537
GGAGGCTTCACCCTGGAAGACATCTGCATGCTGA | GACGAAAGGACCGTGGCAGCACCACC c.1320
G G F T L E D I C M L R | R K D R G S T T p.440
. . . . . . g.44597
AGCCTTGGCAGCGACTTCTCCCTGGTCATGGAGAGTTCCCCAGGAGCCACTGGGAGCTTC c.1380
S L G S D F S L V M E S S P G A T G S F p.460
. . . . . | 17 . g.45538
ACCTATGAGGCCGTGGAGCTGGTCCCAGCAGGAGCGCCAACTCAGGCAGCTTG | GAGGAAG c.1440
T Y E A V E L V P A G A P T Q A A W | R K p.480
. . . . . . g.45598
AGCCACTCATCCTCTCCACAGAGTGTCCTCTGGAACCGGCCACAACCCTCAGAGGACCGC c.1500
S H S S S P Q S V L W N R P Q P S E D R p.500
. . . . . . g.45658
TTGCCTTCCCAGCAGGGGCTGGCGGAAGCCAGGTCTTCCAGCTCCTCTTCCTCAAACCAT c.1560
L P S Q Q G L A E A R S S S S S S S N H p.520
. . . . . | 18 . g.53285
TCTGATAACTTTTTCAGGATGGGTAGCAGTCCCCTGGAGGTCCCCAAACCCAG | ATCAGTG c.1620
S D N F F R M G S S P L E V P K P R | S V p.540
. . . . . . g.53345
GACCATCCCCTGCCCGGATCCTCTCTCTCCACAGACTATGGCAGCTGGCAGATGGTAACG c.1680
D H P L P G S S L S T D Y G S W Q M V T p.560
. . . . . . g.53405
GGCTGTGGCAGTATTCAGGAGCGGGCTGTCCTGCACACAGACTCCTCTCTCCCTTTCAGC c.1740
G C G S I Q E R A V L H T D S S L P F S p.580
. . | 19 . . . g.57388
TTCCCGGATGAGCTCCCTAACAGTTGTCT | GCTTGCAGCCCTGAGTGATCGAGAGACTCGG c.1800
F P D E L P N S C L | L A A L S D R E T R p.600
. . . . . . g.57448
CTGCAGGAGGTGCGCTCAGCCTTCTTGGCTGCGTACAGCAGCACAGTGGGGCTTCGGGCA c.1860
L Q E V R S A F L A A Y S S T V G L R A p.620
. . . . . . g.57508
GTAGCCCCCAGTCCTTCCGGTGCCATCGGGGGCCTGCTGGAGCAATTTGCCCGTGGTGTT c.1920
V A P S P S G A I G G L L E Q F A R G V p.640
. . . g.57541
GGACTCCGGAGCATCAGCAGCAATGCCTTGTGA c.1953
G L R S I S S N A L X p.650
. . . . . . g.57601
agaagccagcccatgacattttcctgctcctctctcagctgagcccttagcagagaatca c.*60
. . . . . . g.57661
aagccatgcctggccgaaggggtacttccaggtcaggggaaatttcagtcccccatctcc c.*120
. . . . . . g.57721
atcatgaacatggcagccccaaagctgagcaaggccaaagacagggttttccaaccccca c.*180
. . . . . . g.57781
gcctcttgactggtgaccaccaccccttcttgtcactgtctcccacccaccccatctttg c.*240
. . . . . . g.57841
ctgggattcccatcaactctcagaactgtgtggggtttccctggggccttgtggaagcca c.*300
. . . . . . g.57901
tgacttcacaaagaccctacctgtcagttcttgtttctggggaggagggatcacctgcac c.*360
. . . . . . g.57961
tgagaatgaggcagtttgacacagatcacaaaataaaatcaaagtctttttgaatagcca c.*420
g.57962
c c.*421
(downstream sequence)
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