(used for variant description)
(last modified June 2, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003245.3 in the TGM3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052959.1, covering TGM3 transcript NM_003245.3.
(upstream sequence)
. . . g.5037
attctataaatggtaaggcaatccttggcagcctgtc c.-61
. . . . . . g.5097
tgtcagcactgtccgtgccattcccagaggagcctgagaagaggcagaggaaggcgaaac c.-1
| 02. . . . . . g.18743
ATGGCTG | CTCTAGGAGTCCAGAGTATCAACTGGCAGACGGCCTTCAACCGACAAGCGCAT c.60
M A A | L G V Q S I N W Q T A F N R Q A H p.20
. . . . . . g.18803
CACACAGACAAGTTCTCCAGCCAGGAGCTCATCTTGCGGAGAGGCCAAAACTTCCAGGTC c.120
H T D K F S S Q E L I L R R G Q N F Q V p.40
. . . . . . g.18863
TTAATGATCATGAACAAAGGCCTTGGCTCTAACGAAAGACTGGAGTTCATTGTCTCCACA c.180
L M I M N K G L G S N E R L E F I V S T p.60
| 03 . . . . . . g.19270
G | GGCCTTACCCCTCAGAGTCGGCCATGACGAAGGCTGTGTTTCCACTCTCCAATGGCAGT c.240
G | P Y P S E S A M T K A V F P L S N G S p.80
. . . . . . g.19330
AGTGGTGGCTGGAGTGCGGTGCTTCAGGCCAGCAATGGCAATACTCTGACTATCAGCATC c.300
S G G W S A V L Q A S N G N T L T I S I p.100
. . . . . . g.19390
TCCAGTCCTGCCAGCGCACCCATAGGACGGTACACAATGGCCCTCCAGATCTTCTCCCAG c.360
S S P A S A P I G R Y T M A L Q I F S Q p.120
. . . . . . g.19450
GGCGGCATCTCCTCTGTGAAACTTGGGACGTTCATACTGCTTTTTAACCCCTGGCTGAAT c.420
G G I S S V K L G T F I L L F N P W L N p.140
| 04 . . . . . . g.20103
G | TGGATAGCGTCTTTATGGGTAACCACGCTGAGAGAGAAGAGTATGTTCAGGAAGATGCC c.480
V | D S V F M G N H A E R E E Y V Q E D A p.160
. . . . . . g.20163
GGCATCATCTTTGTGGGAAGCACAAACCGAATTGGCATGATTGGCTGGAACTTTGGACAG c.540
G I I F V G S T N R I G M I G W N F G Q p.180
| 05 . . . . . . g.21991
| TTTGAAGAAGACATTCTCAGCATCTGCCTCTCAATCTTGGATAGGAGTCTGAATTTCCGC c.600
| F E E D I L S I C L S I L D R S L N F R p.200
. . . . . . g.22051
CGTGACGCTGCTACTGATGTGGCCAGCAGAAATGACCCCAAATACGTTGGCCGGGTGCTG c.660
R D A A T D V A S R N D P K Y V G R V L p.220
| 06 . . . . . g.26152
AGTGCCATG | ATCAATAGCAATGATGACAATGGTGTGCTTGCTGGGAATTGGAGCGGCACT c.720
S A M | I N S N D D N G V L A G N W S G T p.240
. . . . . . g.26212
TACACCGGTGGCCGGGACCCAAGGAGCTGGAACGGCAGCGTGGAGATCCTCAAAAATTGG c.780
Y T G G R D P R S W N G S V E I L K N W p.260
. . . . . . g.26272
AAAAAATCTGGCTTCAGCCCAGTCCGATATGGCCAGTGCTGGGTCTTTGCTGGGACCCTC c.840
K K S G F S P V R Y G Q C W V F A G T L p.280
| 07. . . . . . g.26436
AACACAG | CGCTGCGGTCTTTGGGGATTCCTTCCCGGGTGATCACCAACTTCAACTCAGCT c.900
N T A | L R S L G I P S R V I T N F N S A p.300
. . . . . . g.26496
CATGACACAGACCGAAATCTCAGTGTGGATGTGTACTACGACCCCATGGGAAACCCCCTG c.960
H D T D R N L S V D V Y Y D P M G N P L p.320
. . | 08 . . . . g.34919
GACAAGGGTAGTGATAGCGTATG | GAATTTCCATGTCTGGAATGAAGGCTGGTTTGTGAGG c.1020
D K G S D S V W | N F H V W N E G W F V R p.340
. . . . . . g.34979
TCTGACCTGGGCCCCTCGTACGGTGGATGGCAGGTGTTGGATGCTACCCCGCAGGAAAGA c.1080
S D L G P S Y G G W Q V L D A T P Q E R p.360
| 09. . . . . . g.37206
AGCCAAG | GGGTGTTCCAGTGCGGCCCCGCTTCGGTCATTGGTGTTCGAGAGGGTGATGTG c.1140
S Q G | V F Q C G P A S V I G V R E G D V p.380
. . . . . . g.37266
CAGCTGAACTTCGACATGCCCTTTATCTTCGCGGAGGTTAATGCCGACCGCATCACCTGG c.1200
Q L N F D M P F I F A E V N A D R I T W p.400
. . . . . . g.37326
CTGTACGACAACACCACTGGCAAACAGTGGAAGAATTCCGTGAACAGTCACACCATTGGC c.1260
L Y D N T T G K Q W K N S V N S H T I G p.420
. . . . . . g.37386
AGGTACATCAGCACCAAGGCGGTGGGCAGCAATGCTCGCATGGACGTCACGGACAAGTAC c.1320
R Y I S T K A V G S N A R M D V T D K Y p.440
. | 10 . . . . . g.41082
AAGTACCCAGAAG | GCTCTGACCAGGAAAGACAAGTGTTCCAAAAGGCTTTGGGGAAACTT c.1380
K Y P E G | S D Q E R Q V F Q K A L G K L p.460
. . . . . . g.41142
AAACCCAACACGCCATTTGCCGCGACGTCTTCAATGGGTTTGGAAACAGAGGAACAGGAG c.1440
K P N T P F A A T S S M G L E T E E Q E p.480
. . . . . . g.41202
CCCAGCATCATCGGGAAGCTGAAGGTCGCTGGCATGCTGGCAGTAGGCAAAGAAGTCAAC c.1500
P S I I G K L K V A G M L A V G K E V N p.500
. . . . . . g.41262
CTGGTCCTACTGCTCAAAAACCTGAGCAGGGATACGAAGACAGTGACAGTGAACATGACA c.1560
L V L L L K N L S R D T K T V T V N M T p.520
. . . . . . g.41322
GCCTGGACCATCATCTACAACGGCACGCTTGTACATGAAGTGTGGAAGGACTCTGCCACA c.1620
A W T I I Y N G T L V H E V W K D S A T p.540
. . | 11 . . . . g.44187
ATGTCCCTGGACCCTGAGGAAG | AGGCAGAACATCCCATAAAGATCTCGTACGCTCAGTAT c.1680
M S L D P E E E | A E H P I K I S Y A Q Y p.560
. . . . . . g.44247
GAGAAGTACCTGAAGTCAGACAACATGATCCGGATCACAGCGGTGTGCAAGGTCCCAGAT c.1740
E K Y L K S D N M I R I T A V C K V P D p.580
. . . . . . g.44307
GAGTCTGAGGTGGTGGTGGAGCGGGACATCATCCTGGACAACCCCACCTTGACCCTGGAG c.1800
E S E V V V E R D I I L D N P T L T L E p.600
| 12 . . . . . . g.48947
| GTGCTGAACGAGGCTCGTGTGCGGAAGCCTGTGAACGTGCAGATGCTCTTCTCCAATCCA c.1860
| V L N E A R V R K P V N V Q M L F S N P p.620
. . . . . . g.49007
CTGGATGAGCCGGTGAGGGACTGCGTGCTGATGGTGGAGGGAAGCGGCCTGCTGTTGGGT c.1920
L D E P V R D C V L M V E G S G L L L G p.640
. | 13 . . . . . g.49513
AACCTGAAGATCGA | CGTGCCGACCCTAGGGCCCAAGGAGGGGTCCCGGGTCCGTTTTGAT c.1980
N L K I D | V P T L G P K E G S R V R F D p.660
. . . . . . g.49573
ATCCTGCCCTCCCGGAGTGGCACCAAGCAACTGCTCGCCGACTTCTCCTGCAACAAGTTC c.2040
I L P S R S G T K Q L L A D F S C N K F p.680
. . . . g.49615
CCTGCAATCAAGGCCATGTTGTCCATCGATGTAGCCGAATGA c.2082
P A I K A M L S I D V A E X p.693
. . . . . . g.49675
agggcgctggtggcctcccgtacaaacttggacaacacggagcagggagagctcaccatg c.*60
. . . . . . g.49735
gaatgaaccccccgcccatgctgtccggcctgggaaaccctctccatctcccaaggctgc c.*120
. . . . . . g.49795
cagacatggacctccaggctccagcacatccccctctcctctcccccaggttggggctgg c.*180
. . . . . . g.49855
gtccaccctgtcctatgacttgatcacttttgcacattccctggccgcttctccccagag c.*240
. . . . . . g.49915
ctgcctgctctgtgagccccacagccctgctcattcctcacgcccttcaatgctgcagga c.*300
. . . . . . g.49975
tggactggcccctgacccagggactctccaaacgggatacaggagagaagctggtctaga c.*360
. . . . . . g.50035
ctgtttgctgatccccaacctgcacggggcattcctgcttctctctcaggccaccacaga c.*420
. . . . . . g.50095
gggcaggggatggttagtcacctgccccagcactcacaccctaactcaaaataaatgtta c.*480
. g.50113
aataagtgcgatcacaca c.*498
(downstream sequence)
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