(used for mutation description)
(last modified January 28, 2012)
This file was created to facilitate the description of sequence variants in the ITIH6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013240.1, covering ITIH6 transcript NM_198510.2.
(upstream sequence)
. . . g.5030
gaacaacagatccaggccagaggtggcatc c.-1
. . . . . . g.5090
ATGTCTGGGTGGAGGTACCTCATCTGTGTCAGCTTTTTGCTGACCATTCTTCTTGAACTG c.60
M S G W R Y L I C V S F L L T I L L E L p.20
. . . . | 02 . . g.6162
ACATACCAGGGACCCCCTGTCCCCGCTTCATCAAGCACAAAG | TTGTTAATGACAAGCTAT c.120
T Y Q G P P V P A S S S T K | L L M T S Y p.40
. . . . . . g.6222
TCTATGCGCTCCACGGTGGTGTCTCGCTATGCCCACACCTTGGTCACCTCTGTCCTGTTT c.180
S M R S T V V S R Y A H T L V T S V L F p.60
. . . . . . g.6282
AATCCACATGCTGAAGCCCATGAAGCCATCTTTGACCTGGATCTGCCTCATCTTGCCTTT c.240
N P H A E A H E A I F D L D L P H L A F p.80
. | 03. . . . . g.11247
ATCTCCAATTTCACTAT | GACCATCAACAATAAAGTCTACATTGCAGAAGTCAAAGAGAAG c.300
I S N F T M | T I N N K V Y I A E V K E K p.100
. . . . . . g.11307
CACCAGGCAAAGAAAATCTATGAAGAAGCCCATCAGCAGGGAAAGACAGCTGCTCATGTA c.360
H Q A K K I Y E E A H Q Q G K T A A H V p.120
| 04 . . . . . g.12208
GGCATCAG | GGACCGGGAATCAGAGAAGTTCCGCATCTCCACCAGCCTGGCAGCAGGCACA c.420
G I R | D R E S E K F R I S T S L A A G T p.140
. . . . . . g.12268
GAGGTGACTTTTTCCCTGGCCTATGAGGAACTGCTTCAGCGGCACCAGGGCCAGTACCAG c.480
E V T F S L A Y E E L L Q R H Q G Q Y Q p.160
. . . . . . g.12328
CTGGTGGTGAGCCTGAGGCCTGGCCAATTGGTGAAGAGGCTGAGCATAGAGGTTACAGTG c.540
L V V S L R P G Q L V K R L S I E V T V p.180
. . . . . . g.12388
TCAGAAAGGACAGGCATCTCCTATGTGCACATACCACCCCTGAGGACCGGCCGTCTGCGC c.600
S E R T G I S Y V H I P P L R T G R L R p.200
. | 05 . . . . . g.14635
ACCAATGCCCATGCAA | GTGAGGTGGATTCACCCCCATCCACCAGGATCGAGAGGGGAGAG c.660
T N A H A S | E V D S P P S T R I E R G E p.220
. . . . . . g.14695
ACCTGTGTCCGAATCACCTACTGCCCGACATTGCAAGACCAGTCGTCCATCTCTGGGTCA c.720
T C V R I T Y C P T L Q D Q S S I S G S p.240
. . . . . . g.14755
GGCATCATGGCTGACTTCCTGGTTCAGTACGATGTGGTCATGGAGGACATCATTGGAGAC c.780
G I M A D F L V Q Y D V V M E D I I G D p.260
| 06 . . . . . . g.29097
GTGCAG | ATTTACGATGACTATTTCATTCACTACTTTGCCCCCAGAGGCCTTCCACCTATG c.840
V Q | I Y D D Y F I H Y F A P R G L P P M p.280
. . . . . . g.29157
GAGAAGAATGTGGTTTTTGTTATTGACGTAAGCAGCTCCATGTTTGGTACCAAGATGGAA c.900
E K N V V F V I D V S S S M F G T K M E p.300
| 07 . . . . . . g.43370
CAG | ACTAAAACGGCCATGAATGTGATCCTCAGTGACCTTCAAGCCAATGACTACTTCAAC c.960
Q | T K T A M N V I L S D L Q A N D Y F N p.320
. . . . . . g.43430
ATCATCTCCTTTTCTGACACAGTTAATGTTTGGAAAGCTGGAGGCTCAATCCAGGCCACC c.1020
I I S F S D T V N V W K A G G S I Q A T p.340
. . . . . | 08 . g.44247
ATCCAGAATGTCCACAGTGCCAAGGACTACCTGCATTGCATGGAAGCCGATGGCT | GGACA c.1080
I Q N V H S A K D Y L H C M E A D G W | T p.360
. . . . . . g.44307
GACGTCAACTCAGCTCTGCTGGCAGCTGCTTCAGTGCTGAACCATAGCAACCAGGAGCCT c.1140
D V N S A L L A A A S V L N H S N Q E P p.380
. . . . . . g.44367
GGGAGGGGCCCCAGTGTGGGGAGGATCCCTCTTATCATCTTCCTGACGGATGGGGAGCCC c.1200
G R G P S V G R I P L I I F L T D G E P p.400
. . . . . . g.44427
ACGGCCGGCGTGACGACCCCCAGTGTGATCCTCTCCAATGTCCGTCAGGCGCTAGGCCAC c.1260
T A G V T T P S V I L S N V R Q A L G H p.420
. . . . . . g.44487
AGGGTATCCCTTTTCAGCTTGGCCTTTGGGGATGATGCTGACTTTACACTGCTGCGCCGC c.1320
R V S L F S L A F G D D A D F T L L R R p.440
. . . . . . g.44547
CTGTCCCTGGAAAACCGGGGAATAGCCCGGCGCATATATGAGGACACTGATGCGGCCCTA c.1380
L S L E N R G I A R R I Y E D T D A A L p.460
. . . . . . g.44607
CAGCTGAAGGGCCTCTATGAGGAGATCTCCATGCCTCTGCTGGCAGATGTGCGTCTGAAC c.1440
Q L K G L Y E E I S M P L L A D V R L N p.480
. . . . . . g.44667
TACCTGGGTGGCTTGGTTGGGGCCTCCCCTTGGGCCGTTTTCCCCAACTACTTTGGTGGC c.1500
Y L G G L V G A S P W A V F P N Y F G G p.500
. . . . . . g.44727
TCTGAGCTGGTGGTGGCAGGACAGGTGCAGCCAGGCAAACAGGAACTGGGCATCCACCTG c.1560
S E L V V A G Q V Q P G K Q E L G I H L p.520
. . . . . . g.44787
GCAGCCCGTGGCCCCAAGGATCAGCTTCTTGTGGCCCACCACAGTGAAGGGGCCACCAAC c.1620
A A R G P K D Q L L V A H H S E G A T N p.540
. . . . . . g.44847
AACAGCCAGAAGGCCTTTGGTTGCCCAGGGGAGCCAGCCCCCAATGTGGCCCACTTCATC c.1680
N S Q K A F G C P G E P A P N V A H F I p.560
. . . . . . g.44907
CGCCGCCTCTGGGCCTATGTCACCATTGGAGAACTGCTGGATGCACACTTCCAAGCTCGT c.1740
R R L W A Y V T I G E L L D A H F Q A R p.580
. . . . . . g.44967
GACACCACCACTCGCCACCTGCTGGCTGCCAAAGTCCTCAACCTGTCCCTTGAATACAAC c.1800
D T T T R H L L A A K V L N L S L E Y N p.600
. . . . . . g.45027
TTTGTCACACCTCTGACTTCACTGGTCATGGTGCAACCCAAACAGGCCAGTGAGGAGACC c.1860
F V T P L T S L V M V Q P K Q A S E E T p.620
. . . . . . g.45087
AGGAGACAGACTTCCACCTCTGCTGGGCCAGACACCATCATGCCCTCATCCAGCAGCAGG c.1920
R R Q T S T S A G P D T I M P S S S S R p.640
. . . . . . g.45147
CATGGCCTAGGGGTAAGCACAGCTCAGCCAGCCTTGGTGCCCAAGGTCATCTCCCCCAAA c.1980
H G L G V S T A Q P A L V P K V I S P K p.660
. . . . . . g.45207
TCAAGGCCTGTGAAACCAAAGTTCTACTTATCCTCAACTACTACTGCCTCTACCAAGAAG c.2040
S R P V K P K F Y L S S T T T A S T K K p.680
. . . . . . g.45267
ATGCTAAGTTCCAAAGAGCTGGAGCCATTGGGAGAGAGCCCTCATACCCTGTCAATGCCC c.2100
M L S S K E L E P L G E S P H T L S M P p.700
. . . . . . g.45327
ACATACCCAAAGGCCAAAATTCCAGCACAACAGGATTCTGGCACCTTGGCCCAGCCAACT c.2160
T Y P K A K I P A Q Q D S G T L A Q P T p.720
. . . . . . g.45387
CTCAGGACAAAACCTACCATTCTTGTGCCCTCAAATTCTGGTACTCTGTTGCCTCTGAAG c.2220
L R T K P T I L V P S N S G T L L P L K p.740
. . . . . . g.45447
CCCGGCTCTCTATCACACCAGAATCCTGATATATTACCCACGAACTCCAGGACACAAGTC c.2280
P G S L S H Q N P D I L P T N S R T Q V p.760
. . . . . . g.45507
CCACCTGTGAAACCTGGCATCCCAGCCTCGCCCAAAGCTGACACTGTGAAATGTGTTACT c.2340
P P V K P G I P A S P K A D T V K C V T p.780
. . . . . . g.45567
CCACTGCATTCCAAACCTGGTGCTCCATCGCACCCCCAACTTGGGGCACTCACATCACAG c.2400
P L H S K P G A P S H P Q L G A L T S Q p.800
. . . . . . g.45627
GCACCTAAAGGCCTGCCACAGTCAAGACCTGGAGTCTCTACACTTCAGGTTCCCAAGTAC c.2460
A P K G L P Q S R P G V S T L Q V P K Y p.820
. . . . . . g.45687
CCACTACACACCAGACCTAGGGTTCCTGCTCCCAAGACCCGAAACAACATGCCACACCTG c.2520
P L H T R P R V P A P K T R N N M P H L p.840
. . . . . . g.45747
GGGCCTGGAATCCTCTTGTCCAAGACCCCTAAAATCTTATTATCTCTTAAACCGAGTGCC c.2580
G P G I L L S K T P K I L L S L K P S A p.860
. . . . . . g.45807
CCACCACACCAAATTTCCACAAGCATATCACTTTCCAAGCCTGAGACCCCAAACCCCCAT c.2640
P P H Q I S T S I S L S K P E T P N P H p.880
. . . . . . g.45867
ATGCCTCAAACCCCACTACCTCCTAGACCTGACAGACCAAGGCCCCCACTTCCTGAGAGC c.2700
M P Q T P L P P R P D R P R P P L P E S p.900
. . . . . . g.45927
CTAAGCACATTCCCAAATACAATCTCAAGTTCCACAGGTCCCAGCAGTACCACAACCACC c.2760
L S T F P N T I S S S T G P S S T T T T p.920
. . . . . . g.45987
TCTGTCCTTGGAGAACCCCTCCCCATGCCCTTTACTCCCACTCTGCCCCCTGGAAGGTTC c.2820
S V L G E P L P M P F T P T L P P G R F p.940
. . . . . . g.46047
TGGCATCAGTATGACCTCCTCCCGGGTCCCCAGAGGACCAGGCAAGTTCTGGGACCATCT c.2880
W H Q Y D L L P G P Q R T R Q V L G P S p.960
. . . . . . g.46107
AGGCCAGGAGTTCCAACAATGAGCCTACTCAACAGCTCCAGGCCTACACCAGAAGGCAGC c.2940
R P G V P T M S L L N S S R P T P E G S p.980
. . . . . . g.46167
CCTCCAAACCTGCCAATCTTGCTGCCTTCTAGCATCCTCCCTGAGGCCATCAGTCTGCTC c.3000
P P N L P I L L P S S I L P E A I S L L p.1000
. . . . . . g.46227
CTTCTCCCTGAGGAGCTAGAGCTGCTGTCTGAATCAATGGTGGAATCCAAGTTCGTGGAG c.3060
L L P E E L E L L S E S M V E S K F V E p.1020
. . . . | 09 . g.48142
TCCTTGAACCCACCAGCTTTCTATACCTTCCTCACTCCTGATGAAGATG | GAAGTCCAAAC c.3120
S L N P P A F Y T F L T P D E D G | S P N p.1040
. . . . . . g.48202
TGGGATGGCAATTCTGAGGAGATCCTGGGAGGAGCTGGAGGCAGCATGGAATCTCAAGGA c.3180
W D G N S E E I L G G A G G S M E S Q G p.1060
. . | 10 . . . | 11 g.49478
AGTTCTGTGGGGTTAGCAAAAG | GCACATTGCCTAGCATCTTCACCTTCTCCTCCTCAG | TG c.3240
S S V G L A K G | T L P S I F T F S S S V | p.1080
. . . . . . g.49538
GACGGGGACCCCCACTTTGTGATCCAAATCCCACACTCAGAAGAGAAGATCTGCTTCACA c.3300
D G D P H F V I Q I P H S E E K I C F T p.1100
. . . . . | 12 . g.51868
CTGAATGGGCACCCTGGGGACTTGCTGCAGCTCATAGAGGACCCAAAGGCAG | GGCTGCAT c.3360
L N G H P G D L L Q L I E D P K A G | L H p.1120
. . . . . . g.51928
GTGAGTGGGAAGCTGCTTGGCGCACCACCAAGGCCGGGCCACAAGGACCAGACTCGCACC c.3420
V S G K L L G A P P R P G H K D Q T R T p.1140
. . . . . . g.51988
TACTTCCAGATCATCACAGTCACTACAGACAAACCCCGGGCCTATACTATCACCATCAGC c.3480
Y F Q I I T V T T D K P R A Y T I T I S p.1160
. . . . . . g.52048
CGCAGTTCTATATCTTTGCGAGGCGAGGGTACCTTGCGCCTGTCCTGGGACCAACCTGCC c.3540
R S S I S L R G E G T L R L S W D Q P A p.1180
. . . . . . g.52108
CTGCTGAAGAGGCCCCAGCTGGAGCTCTATGTGGCTGCTGCAGCCCGCCTTACCCTCCGC c.3600
L L K R P Q L E L Y V A A A A R L T L R p.1200
. . . . . . g.52168
CTTGGGCCCTACCTTGAGTTCCTAGTCCTCCGACACCGCTACAGGCATCCCAGTACCCTG c.3660
L G P Y L E F L V L R H R Y R H P S T L p.1220
. . . . . . g.52228
CAACTACCCCACCTGGGGTTCTACGTGGCCAATGGCTCAGGCCTCAGCCCCTCAGCCCGT c.3720
Q L P H L G F Y V A N G S G L S P S A R p.1240
. | 13 . . . . . g.53184
GGCCTGATAG | GGCAGTTCCAGCACGCAGACATCCGACTGGTGACAGGACCTATGGGGCCA c.3780
G L I G | Q F Q H A D I R L V T G P M G P p.1260
. . . . . . g.53244
TGCTTACGAAGGCACCATGGCCCAGATGTGCCTGTGATTCTAGGCAAGAGGCTGCTGAAG c.3840
C L R R H H G P D V P V I L G K R L L K p.1280
. . . . . . g.53304
GACTCACCAAGGCTGCTGCCCCGCTGGGCTTCCTGCTGGCTGGTGAAGCGCTCTCATGTA c.3900
D S P R L L P R W A S C W L V K R S H V p.1300
. . . . g.53346
GAGCTGCTTCTGGGCCACCCCTACCTCTCCTATGTCCTGTGA c.3942
E L L L G H P Y L S Y V L X p.1313
. . . . . . g.53406
tggcttctgaattccagagccaggagacctgaatttgggagatccagaaaccagggcatg c.*60
. . . . . . g.53466
gggtgagccagggacagagacccaaggacatggaagcacacacagggacacacagactca c.*120
. . . . . . g.53526
cgcatgttctaaggaacacatatacaagggtatacaaacacatagacatgcagagacata c.*180
. . . . . . g.53586
gagtcagggactcctgcatcttcatggtccttcacatctccagtctcaccctctccaaat c.*240
. . . . . . g.53646
ccatgctcctcaccagccctacaagccacttttgtaaaacgaaaaaatgatcagtagttc c.*300
. . . . . . g.53706
tgctcacagctttccctaactcctatggcatattcaaggctctcagagtttccctaacaa c.*360
. . . . . . g.53766
accatgctcactcctaccactggaccattgcatgtgcttttccttctgcatgaaacactc c.*420
. . . . . . g.53826
ttcctttgttcctgtaggtgagtataattcatccttcaaatcctagttgttacctcttct c.*480
. . . . . . g.53886
aggaggcctttcctgatgcctgccctagattgagtttggtcctgtcctctgggttcctat c.*540
. . . . . . g.53946
agcccacccccaaccctccacgctcacagtatttatactgtgtagtaatcatctgtttac c.*600
. . . . . . g.54006
ttgtctggatccctgacttagactgtgagatctttgagggcaaggaccttttctgaatca c.*660
. . . . . . g.54066
tctatgtatccccagtgcctctcacataataggtgcttagtaaatatttgttaaaagaat c.*720
. . . . . . g.54126
gaattaattaattaacaaaaaaggatcccataacatagcaatagacacacatatatacat c.*780
. . . . . . g.54186
actcacaaccaaagacacaggatcacacccggaaaaacagtgacaagggcacagatatgg c.*840
. . . . . . g.54246
atggatagagggacagacatttatggaaacacaggaatcacaaaacaaacatggacatag c.*900
. . . . . . g.54306
gggtatagagacataaaaagatggggacagggagccagagtggcagaatcagggacataa c.*960
. . . g.54342
actcagagaaaaaggaacagatgctctctggctgca c.*996
(downstream sequence)
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