(used for variant description)
(last modified September 6, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000359.2 in the TGM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007150.1, covering TGM1 transcript NM_000359.2.
(upstream sequence)
g.5004
acat c.-121
. . . . . . g.5064
aagtcacttaccaggtctgtccctgcggcatccagtctgtgggtcctgtcccatccatcc c.-61
. . . . . . | 02 g.5858
tgacctgttccatctcagccccaggactcagtactgcggttgccaacactgctgccag | gc c.-1
. . . . . . g.5918
ATGATGGATGGGCCACGTTCCGATGTGGGCCGTTGGGGTGGCAACCCCTTGCAGCCCCCT c.60
M M D G P R S D V G R W G G N P L Q P P p.20
. . . . . . g.5978
ACCACGCCATCTCCAGAGCCAGAGCCAGAGCCAGACGGACGCTCTCGCAGAGGAGGAGGC c.120
T T P S P E P E P E P D G R S R R G G G p.40
. . . . . . g.6038
CGTTCCTTCTGGGCTCGCTGCTGTGGCTGCTGTTCATGCCGAAATGCGGCAGATGACGAC c.180
R S F W A R C C G C C S C R N A A D D D p.60
. . . . . . g.6098
TGGGGACCTGAACCCTCTGACTCCAGGGGTCGAGGGTCCAGCTCTGGCACTCGAAGACCT c.240
W G P E P S D S R G R G S S S G T R R P p.80
. . . . . . g.6158
GGCTCCCGGGGCTCAGACTCCCGCCGGCCTGTATCCCGGGGCAGCGGTGTCAATGCAGCT c.300
G S R G S D S R R P V S R G S G V N A A p.100
. | 03 . . . . g.6368
GGAGATGGCACCATCCGAG | AGGGCATGCTAGTAGTGAACGGTGTGGACTTGCTGAGCTCG c.360
G D G T I R E | G M L V V N G V D L L S S p.120
. . . . . . g.6428
CGCTCGGACCAGAACCGCCGAGAGCACCACACAGACGAGTATGAGTACGACGAGCTGATA c.420
R S D Q N R R E H H T D E Y E Y D E L I p.140
. . . . . . g.6488
GTGCGCCGCGGGCAGCCTTTCCATATGCTCCTCCTCCTGTCCCGGACCTATGAATCCTCT c.480
V R R G Q P F H M L L L L S R T Y E S S p.160
. . | 04 . . . g.7544
GATCGCATCACCCTTGAGTTACTCATCG | GAAACAACCCCGAGGTGGGCAAGGGCACGCAC c.540
D R I T L E L L I G | N N P E V G K G T H p.180
. . . . . . g.7604
GTGATCATCCCAGTGGGCAAGGGGGGCAGTGGAGGCTGGAAAGCCCAGGTGGTCAAGGCC c.600
V I I P V G K G G S G G W K A Q V V K A p.200
. . . . . . g.7664
AGTGGGCAGAATCTGAACCTGCGGGTCCACACTTCCCCCAACGCCATCATCGGCAAGTTT c.660
S G Q N L N L R V H T S P N A I I G K F p.220
. . . . . . g.7724
CAGTTCACAGTCCGCACACAATCAGACGCTGGGGAGTTCCAGTTGCCCTTTGACCCCCGC c.720
Q F T V R T Q S D A G E F Q L P F D P R p.240
. . . | 05. . . g.8175
AATGAGATCTACATCCTCTTCAACCCCTGGTGCCCAG | AGGACATTGTGTACGTGGACCAT c.780
N E I Y I L F N P W C P E | D I V Y V D H p.260
. . . . . . g.8235
GAGGATTGGCGGCAGGAGTATGTTCTTAATGAGTCTGGGAGAATTTACTACGGGACCGAA c.840
E D W R Q E Y V L N E S G R I Y Y G T E p.280
. . . | 06 . . . g.8423
GCACAGATTGGTGAGCGGACCTGGAACTACGGCCAG | TTTGACCACGGGGTGCTGGATGCC c.900
A Q I G E R T W N Y G Q | F D H G V L D A p.300
. . . . . . g.8483
TGCTTATACATCCTGGACCGGCGGGGGATGCCATATGGAGGCCGTGGAGACCCAGTCAAT c.960
C L Y I L D R R G M P Y G G R G D P V N p.320
. . | 07 . . . . g.8997
GTCTCCCGGGTCATCTCTGCCATG | GTGAACTCCCTGGATGACAATGGAGTCCTGATTGGG c.1020
V S R V I S A M | V N S L D D N G V L I G p.340
. . . . . . g.9057
AACTGGTCTGGTGATTACTCCCGAGGCACCAACCCATCAGCGTGGGTGGGCAGCGTGGAG c.1080
N W S G D Y S R G T N P S A W V G S V E p.360
. . . . . . g.9117
ATCCTGCTTAGCTACCTACGCACGGGATATTCCGTCCCCTATGGCCAGTGCTGGGTCTTT c.1140
I L L S Y L R T G Y S V P Y G Q C W V F p.380
. | 08 . . . . g.9578
GCTGGCGTGACCACCACAG | TGCTGCGCTGCCTGGGTCTGGCCACCCGTACTGTCACCAAC c.1200
A G V T T T V | L R C L G L A T R T V T N p.400
. . . . . . g.9638
TTCAACTCCGCCCACGACACAGACACATCCCTTACCATGGACATCTACTTCGACGAGAAC c.1260
F N S A H D T D T S L T M D I Y F D E N p.420
. . . | 09 . . g.9844
ATGAAGCCCCTGGAGCACCTGAACCATGATTCTGTCTG | GAACTTCCATGTGTGGAACGAC c.1320
M K P L E H L N H D S V W | N F H V W N D p.440
. . . . . . g.9904
TGCTGGATGAAGAGGCCGGATCTGCCCTCGGGCTTTGATGGGTGGCAGGTGGTGGATGCC c.1380
C W M K R P D L P S G F D G W Q V V D A p.460
. . | 10 . . . . g.12171
ACACCCCAAGAGACTAGCAGTG | GCATCTTCTGCTGCGGCCCCTGCTCTGTGGAGTCCATC c.1440
T P Q E T S S G | I F C C G P C S V E S I p.480
. . . . . | 11 . g.12702
AAGAATGGCCTGGTCTACATGAAGTACGACACGCCTTTCATTTTTGCTGAG | GTGAATAGT c.1500
K N G L V Y M K Y D T P F I F A E | V N S p.500
. . . . . . g.12762
GACAAGGTGTACTGGCAGCGGCAGGATGATGGCAGCTTCAAGATTGTTTATGTGGAGGAG c.1560
D K V Y W Q R Q D D G S F K I V Y V E E p.520
. . . . . . g.12822
AAGGCCATCGGCACACTCATTGTCACAAAGGCCATCAGCTCCAACATGCGGGAGGACATC c.1620
K A I G T L I V T K A I S S N M R E D I p.540
. . | 12 . . . . g.12992
ACCTACCTCTATAAGCACCCAGAAG | GCTCAGACGCAGAGCGGAAGGCAGTAGAGACAGCA c.1680
T Y L Y K H P E G | S D A E R K A V E T A p.560
. . . . . . g.13052
GCAGCCCACGGCAGCAAACCCAATGTGTATGCCAACCGGGGCTCAGCGGAGGATGTGGCC c.1740
A A H G S K P N V Y A N R G S A E D V A p.580
. . . . . . g.13112
ATGCAGGTGGAGGCACAGGACGCGGTGATGGGGCAGGATCTGATGGTCTCTGTGATGCTG c.1800
M Q V E A Q D A V M G Q D L M V S V M L p.600
. . . . . . g.13172
ATCAATCACAGCAGCAGCCGCCGCACAGTGAAACTGCACCTCTACCTCTCAGTCACTTTC c.1860
I N H S S S R R T V K L H L Y L S V T F p.620
. . . . . . g.13232
TATACTGGTGTCAGTGGTACCATCTTCAAGGAGACCAAGAAGGAAGTGGAGCTGGCACCA c.1920
Y T G V S G T I F K E T K K E V E L A P p.640
| 13. . . . . . g.13439
GGGGCCT | CGGACCGTGTGACCATGCCAGTGGCCTACAAGGAATACCGGCCCCATCTTGTG c.1980
G A S | D R V T M P V A Y K E Y R P H L V p.660
. . . . . . g.13499
GACCAGGGGGCCATGCTGCTCAATGTCTCAGGCCACGTCAAGGAGAGCGGGCAGGTGCTG c.2040
D Q G A M L L N V S G H V K E S G Q V L p.680
. . . . | 14 . g.13934
GCCAAGCAGCACACCTTCCGTCTGCGCACCCCAGACCTCTCCCTCACG | TTACTGGGAGCA c.2100
A K Q H T F R L R T P D L S L T | L L G A p.700
. . . . . . g.13994
GCAGTGGTTGGCCAGGAGTGTGAAGTACAGATTGTCTTCAAGAACCCCCTTCCCGTCACC c.2160
A V V G Q E C E V Q I V F K N P L P V T p.720
. . . . . . g.14054
CTCACCAATGTCGTCTTCCGGCTCGAAGGCTCTGGGTTACAGAGGCCCAAGATCCTCAAC c.2220
L T N V V F R L E G S G L Q R P K I L N p.740
| 15 . . . . . . g.18724
GTTGG | GGACATTGGAGGCAATGAAACAGTGACACTGCGCCAGTCGTTTGTGCCTGTGCGA c.2280
V G | D I G G N E T V T L R Q S F V P V R p.760
. . . . . . g.18784
CCAGGCCCCCGCCAGCTCATTGCCAGCTTGGACAGCCCACAGCTCTCCCAGGTGCACGGT c.2340
P G P R Q L I A S L D S P Q L S Q V H G p.780
. . . . . . g.18844
GTCATCCAGGTGGATGTGGCCCCAGCCCCTGGGGATGGGGGCTTCTTCTCAGACGCTGGA c.2400
V I Q V D V A P A P G D G G F F S D A G p.800
. . . . . g.18898
GGTGACAGTCACTTAGGAGAGACCATCCCTATGGCATCTCGAGGTGGAGCTTAG c.2454
G D S H L G E T I P M A S R G G A X p.817
. . . . . . g.18958
ccccgtgccaggagcaatgggactggagtcagatgagcaaggacattgccccaagatagg c.*60
. . . . . . g.19018
ggcacactacagagcagctccccaggagctcaggtggggagtccagggctcccggagggg c.*120
. . . . . . g.19078
gagtccagggctcccggagagggagtcagtcttcacttgcactgggggaacagatgctaa c.*180
. g.19097
taaactgttttttaatgaa c.*199
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 07
©2004-2013 Leiden University Medical Center