(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the TTC7A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering TTC7A transcript NM_020458.2.
(upstream sequence)
g.1008
ggccaggg c.-361
. . . . . . g.1068
gcgggtccgcagctggcggcgccggggcccggggcggaggctgtggcagcagctgcagcg c.-301
. . . . . . g.1128
gcggcggcggcggcagcgccaggagctgctacagcagaggcggaggttgctcctgtacgc c.-241
. . . . . . g.1188
gtacgggccgctcggccggagccgcagcccggaggcgccgggcggtgcgctgggagctgc c.-181
. . . . . . g.1248
tggtgctgctgctgctgctgctgcccaccctccgccgcccgggcccccgctgccgcccgg c.-121
. . . . . . g.1308
gccccggctgccgtctgcgcccccgtcgaccccgcccgcgagtgcgccccagccaggacg c.-61
. . . . . . g.1368
ccgcccccggccgggtctccacttcttggccgcaccttccatgacagcgcccgcgagaag c.-1
. . . . . . g.1428
ATGGCTGCGAAGGGCGCGCACGGCTCCTACCTGAAGGTGGAGAGCGAGCTGGAGCGCTGC c.60
M A A K G A H G S Y L K V E S E L E R C p.20
. . . . . . g.1488
CGCGCCGAGGGCCACTGGGACCGCATGCCGGAGCTGGTCCGGCAGCTGCAGACGCTGAGC c.120
R A E G H W D R M P E L V R Q L Q T L S p.40
. . . . . . g.1548
ATGCCCGGCGGCGGAGGTAACAGGCGAGGCAGCCCGAGCGCAGCGTTCACCTTTCCGGAC c.180
M P G G G G N R R G S P S A A F T F P D p.60
| 02 . . . . . . g.10245
ACCG | ATGACTTTGGGAAATTGCTGCTGGCTGAGGCCCTCCTGGAGCAGTGTTTGAAGGAG c.240
T D | D F G K L L L A E A L L E Q C L K E p.80
. . . . . . g.10305
AACCATGCCAAAATAAAAGACTCCATGCCTTTGCTGGAGAAGAATGAGCCGAAGATGAGC c.300
N H A K I K D S M P L L E K N E P K M S p.100
. . . . | 03 . g.16677
GAAGCCAAAAATTATCTAAGCAGTATCCTTAACCATGGGAGGCTCTCG | CCACAGTACATG c.360
E A K N Y L S S I L N H G R L S | P Q Y M p.120
. . . . . . g.16737
TGTGAGGCCATGCTGATCCTGGGCAAACTGCATTACGTGGAGGGCTCATACCGAGATGCC c.420
C E A M L I L G K L H Y V E G S Y R D A p.140
. . . . . . g.16797
ATCAGCATGTACGCACGGGCCGGGATTGATGACATGTCCATGGAGAACAAGCCCCTGTAT c.480
I S M Y A R A G I D D M S M E N K P L Y p.160
. . . | 04. . . g.34822
CAGATGCGGCTGCTGTCGGAGGCTTTTGTCATCAAAG | GCCTCTCTCTGGAACGCCTACCC c.540
Q M R L L S E A F V I K G | L S L E R L P p.180
. . . . . . g.34882
AACTCCATCGCCTCCCGCTTCCGCCTGACAGAGAGGGAGGAGGAAGTGATCACCTGTTTT c.600
N S I A S R F R L T E R E E E V I T C F p.200
. . . . | 05 . g.38630
GAGAGGGCCTCCTGGATCGCTCAGGTGTTCCTGCAGGAATTGGAGAAG | ACCACAAATAAC c.660
E R A S W I A Q V F L Q E L E K | T T N N p.220
. . . . . . g.38690
AGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGCTCACCTACTTCCTG c.720
S T S R H L K G C H P L D Y E L T Y F L p.240
. . . . | 06 . . g.53292
GAAGCTGCCCTCCAGAGCGCCTATGTGAAAAACCTGAAGAAGGG | GAACATCGTGAAGGGC c.780
E A A L Q S A Y V K N L K K G | N I V K G p.260
. . . . . . g.53352
ATGAGAGAGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAACTTCAAA c.840
M R E L R E V L R T V E T K A T Q N F K p.280
| 07 . . . . . . g.54240
GTG | ATGGCGGCCAAGCACCTGGCGGGGGTCCTGCTGCACTCCCTGAGTGAGGAGTGCTAC c.900
V | M A A K H L A G V L L H S L S E E C Y p.300
. . . . . . g.54300
TGGAGCCCCCTGTCCCACCCTCTGCCTGAGTTCATGGGCAAGGAGGAGAGTTCTTTCGCC c.960
W S P L S H P L P E F M G K E E S S F A p.320
. . . . | 08 . . g.54981
ACTCAGGCCCTGCGGAAACCTCACCTCTATGAAGGAGACAA | CCTCTACTGCCCCAAGGAC c.1020
T Q A L R K P H L Y E G D N | L Y C P K D p.340
. . . . | 09 . . g.65763
AACATCGAGGAAGCCCTCCTGCTCCTCCTCATCAGCGAATCCATG | GCAACTCGAGATGTG c.1080
N I E E A L L L L L I S E S M | A T R D V p.360
. . . . . . g.65823
GTGCTGAGCCGGGTGCCGGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGAATGCCGCA c.1140
V L S R V P E Q E E D R T V S L Q N A A p.380
. . . . . . g.65883
GCCATCTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCG c.1200
A I Y D L L S I T L G R R G Q Y V M L S p.400
| 10 . . . . . . g.66524
GAG | TGCCTGGAGCGAGCCATGAAGTTTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTG c.1260
E | C L E R A M K F A F G E F H L W Y Q V p.420
. . | 11. . . . g.71190
GCCCTCTCCATGGTGGCTTGTGGGAAG | TCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGT c.1320
A L S M V A C G K | S A Y A V S L L R E C p.440
. . . . . . g.71250
GTGAAGTTGCGGCCCTCGGACCCCACCGTGCCCCTGATGGCCGCGAAGGTCTGCATCGGG c.1380
V K L R P S D P T V P L M A A K V C I G p.460
. | 12 . . . . . g.81736
TCCCTTCGCTGG | CTAGAGGAAGCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAG c.1440
S L R W | L E E A E H F A M M V I S L G E p.480
. . . . . . g.81796
GAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGGCTCTGGGTCTCACCTATAGCCTGCAG c.1500
E A G E F L P K G Y L A L G L T Y S L Q p.500
. | 13 . . . . . g.83284
GCCACCGACG | CCACCCTGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGCAGACG c.1560
A T D A | T L K S K Q D E L H R K A L Q T p.520
| 14 . . . . . g.84165
CTGGAGAG | GGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTCATCCTCTATGTCTCGCTG c.1620
L E R | A Q Q L A P S D P Q V I L Y V S L p.540
. . | 15 . . . . g.89089
CAGCTGGCCCTCGTCCGACAG | ATCTCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAG c.1680
Q L A L V R Q | I S S A M E Q L Q E A L K p.560
. . . . . . g.89149
GTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTCTGCCCAGAAG c.1740
V R K D D A H A L H L L A L L F S A Q K p.580
. . . . . . g.89209
CACCACCAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAGCACCCTGAGAACTTC c.1800
H H Q H A L D V V N M A I T E H P E N F p.600
| 16 . . . . . . g.106199
AA | CCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCCTC c.1860
N | L M F T K V K L E Q V L K G P E E A L p.620
. . . . . | 17 g.109776
GTGACCTGCAGACAAGTGCTGAGGCTGTGGCAGACCCTGTACAGCTTCTCCCAGCTGGG | A c.1920
V T C R Q V L R L W Q T L Y S F S Q L G | p.640
. . . . . . g.109836
GGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATG c.1980
G L E K D G S F G E G L T M K K Q S G M p.660
. . . | 18. . . g.111595
CACCTGACTTTGCCTGATGCCCATGATGCAGACTCTG | GCTCCCGGCGGGCTTCGTCCATC c.2040
H L T L P D A H D A D S G | S R R A S S I p.680
. . . . . . g.111655
GCCGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAG c.2100
A A S R L E E A M S E L T M P S S V L K p.700
. . . . . | 19 . g.120603
CAGGGCCCCATGCAGCTGTGGACCACGCTGGAACAGATCTGGCTGCAGGCTG | CTGAGCTG c.2160
Q G P M Q L W T T L E Q I W L Q A A | E L p.720
. . . . . . g.120663
TTCATGGAGCAGCAGCACCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTC c.2220
F M E Q Q H L K E A G F C I Q E A A G L p.740
. . . . . . g.120723
TTCCCCACTTCTCACTCAGTACTCTATATGCGGGGCCGGCTGGCTGAGGTGAAGGGCAAC c.2280
F P T S H S V L Y M R G R L A E V K G N p.760
. . . . . . g.120783
CTGGAGGAGGCCAAGCAGCTGTACAAGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGC c.2340
L E E A K Q L Y K E A L T V N P D G V R p.780
. | 20 . . . . . g.133573
ATCATGCATAGCCTG | GGTCTGATGCTGAGTCGGCTGGGCCACAAGAGCTTGGCCCAGAAG c.2400
I M H S L | G L M L S R L G H K S L A Q K p.800
. . . . . . g.133633
GTGCTTCGTGATGCCGTGGAGAGGCAGAGTACGTGCCACGAGGCGTGGCAGGGCCTGGGC c.2460
V L R D A V E R Q S T C H E A W Q G L G p.820
. . . . . . g.133693
GAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTGACTGCTTCCTCACCGCCCTT c.2520
E V L Q A Q G Q N E A A V D C F L T A L p.840
. . . . . g.133750
GAGCTGGAGGCCAGCAGCCCTGTACTGCCCTTCTCCATCATCCCCAGAGAGCTCTGA c.2577
E L E A S S P V L P F S I I P R E L X p.858
. . . . . . g.133810
cgacgctgcagccgcagggagggaggggctggccagagggagaggcagcagggaacgtgg c.*60
. . . . . . g.133870
gtcagggtggggcaacagtggcatcaggtgcggggcctcagggaaatacatctttagtga c.*120
. . . . . . g.133930
acgcctctgcagctgcagccctcgttctcttggctgggccaagagggccttcctggattt c.*180
. . . . . . g.133990
ctttgttggtgccttgggaaacagtctgacttgaaccctaagtgcctttggagagttttg c.*240
. . . . . . g.134050
tggtgaccagacttgctccccaagagctgggcagcggggagcctcacagctgtccttcac c.*300
. . . . . . g.134110
cctcacccatgcctctggcttggagtctgggtggggggttctcactccccactctcagca c.*360
. . . . . . g.134170
cagtacagacttctggatctctctcaggtcttgcccagggcggtcacaatgtgaagaaac c.*420
. . . . . . g.134230
tgcgggcaagtgggaagactatgagatttctgggttcccttctcagacttggagttagta c.*480
. . . . . . g.134290
gatgattcctgcattgcccctgcttgccctctgagaccagctgggccccaccttgctctt c.*540
. . . . . . g.134350
tccccctgctaccaagtgcctttggggtctgaccaggggtactgagcaccggccctaaca c.*600
. . . . . . g.134410
cttccatctccacccaccccatctccctggcgatgtgctccagcccaagcagcctccgta c.*660
. . . . . . g.134470
ggctttagatcctgtggttgctagatccagtcctttctaataccctgagtcaacacatta c.*720
. . . . . . g.134530
ctcctgcaggtcttaggctacaatgcaggtcccttgagggccaccaacatggaggtaggc c.*780
. . . . . . g.134590
agtttctaggactgtccccagtacatctcaccacccacagccctttttttgccttgattc c.*840
. . . . . . g.134650
gagcctcaccctggccttttggcttcccctgcctgagagagacctgaggaggggacagag c.*900
. . . . . . g.134710
cccagcccctctcctgtggctgagcaggcctctgtgtccatgacacctgtcttccgggcc c.*960
. . . . . . g.134770
tgggggctgtgggtgtatgtcctccctactggcttccccggcccctgctgcatgatgctc c.*1020
. . . . . . g.134830
ttggaactcttctccaaggagtcagtcccccaggcctatcaggggatccttttgtatctg c.*1080
. . . . . . g.134890
cactttgggttttagtttcaaagctccatcaggtacagcttgcatttcaggatgtgtgga c.*1140
. . . . . . g.134950
aagctcgggtgagggctgccctggttcatcatagctccaccttcctcggaaggagtgggc c.*1200
. . . . . . g.135010
tgttggagaccccccatccatggcacactagctcagcactgcatttcccgagatgattcc c.*1260
. . . . . . g.135070
caagacagctggtgcctcctggctttcctgtgccaggccaaggggcaccacagaggaccc c.*1320
. . . . . . g.135130
tggatcctttgcctcttcttggttgaaggatctctatgtatgtgtgtatataaatatagt c.*1380
. . . . . . g.135190
tttttatctatatatataaaatagagatctattttttttctggaattctgttagaaaagt c.*1440
. . . . . . g.135250
aaagaaaaagcaaatgctgttggtttatctcagggtgcccaaagtggttatagtcaattt c.*1500
. . . . . . g.135310
ttggtactaggaaaggcacccaatgcatttcctgacttttaagcatttccttgttggaag c.*1560
. . . . . . g.135370
cagcagagggccaggccaagttgctgacagtgactttgcaggttgaataaagaaaccctt c.*1620
. . . . . . g.135430
ggaggggaagcaggcttgtctgaagcagcatgtatattcactgggcatgtagctcccaca c.*1680
. . . . . . g.135490
ccagccttgagccaggccctggacaggaggggctgttgcaggatgagggaggccagagaa c.*1740
. . . . . . g.135550
ggcatcgaagccaagacctgggcccacctggggagggatgtgggaaaggaaggatgggag c.*1800
. . . . . . g.135610
ggaggaccctctgggaaaatgtggatttgagctggtgagagtgttgctaaggctgggcta c.*1860
. . . . . . g.135670
aagcctggagagggtaggaggaggcaagaggggtccaggcagggctgatcctggcctctg c.*1920
. . . . . . g.135730
acctgtccagggcgacccctgaagcccctgctgcctctgggcattgctgggagaggccaa c.*1980
. . . . . . g.135790
ggcaggactcacgtctgaacagagatcccctcgggcattgctgatgggccaccttcagct c.*2040
. . . . . . g.135850
gcagggaagaagcctaggagaggaggcatgggagggacctgggccttgttcagattggcc c.*2100
. . . . . . g.135910
acctctgctgagaagtccataccagtacacccctaataagttatgccacataccaacgta c.*2160
. . . . . g.135963
ctgtggatattataacctgcattaaaacaactctaaagaacgctgctcattta c.*2213
(downstream sequence)
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