(used for variant description)
(last modified May 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_015072.4 in the TTLL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering TTLL5 transcript NM_015072.4.
(upstream sequence)
. . . g.5035
agctgagcgttatgagcgcctgcgcagtggctccg c.-241
. . . . . . g.5095
agcgggcggttgcttgttggttgttgtagtaaccggggaagcagccgtcggcggctgccc c.-181
. . . . . . g.5155
tgagccttcctggggaaggaggagggaggtaggcgcagagcgcggtccacgcctgctcgc c.-121
. . . | 02 . . . g.6882
cccgaaccatgggaagatgagacag | gaatctgtgccatccaaattgcttgatccagtgaa c.-61
. . . . . . g.6942
tctgctaggaaaggtctctgaggcccccgtctgctgactgcatgacaaaccctaaaggaa c.-1
. . . . . . g.7002
ATGCCAATCGTGATGGCCCGGGACCTGGAGGAAACAGCATCATCCTCAGAGGATGAGGAG c.60
M P I V M A R D L E E T A S S S E D E E p.20
. | 03 . . . . . g.13254
GTCATAAGTCAAGA | GGATCATCCATGCATCATGTGGACTGGAGGCTGCAGGAGAATTCCA c.120
V I S Q E | D H P C I M W T G G C R R I P p.40
. . . . . . g.13314
GTTTTGGTATTCCATGCCGACGCTATTCTTACAAAGGACAACAATATTAGAGTAATTGGA c.180
V L V F H A D A I L T K D N N I R V I G p.60
| 04 . . . . . . g.25396
G | AACGTTATCATTTGTCTTATAAGATTGTACGAACGGACAGTCGCCTAGTACGCAGCATT c.240
E | R Y H L S Y K I V R T D S R L V R S I p.80
. . | 05 . . . . g.27378
CTGACAGCCCATGGATTTCATGAA | GTTCACCCAAGCAGCACTGACTATAACCTAATGTGG c.300
L T A H G F H E | V H P S S T D Y N L M W p.100
. . . . . . g.27438
ACAGGATCCCACCTGAAGCCCTTCTTACTGCGCACCCTCTCTGAAGCACAAAAAGTTAAT c.360
T G S H L K P F L L R T L S E A Q K V N p.120
. | 06 . . . . . g.34033
CACTTTCCCAG | GTCTTATGAACTTACCCGGAAGGACCGACTGTACAAAAACATTATTCGA c.420
H F P R | S Y E L T R K D R L Y K N I I R p.140
. . . . . . g.34093
ATGCAGCATACACATGGATTCAAGGCTTTTCACATCCTCCCCCAGACCTTCCTCCTGCCA c.480
M Q H T H G F K A F H I L P Q T F L L P p.160
. . | 07 . . . . g.43018
GCTGAGTACGCGGAATTTTGTA | ATTCATATTCGAAGGACCGGGGACCTTGGATAGTAAAA c.540
A E Y A E F C N | S Y S K D R G P W I V K p.180
. . . . | 08 . . g.50825
CCAGTGGCATCTTCAAGGGGGCGGGGCGTCTACCTGATCAACAAT | CCAAACCAGATCTCC c.600
P V A S S R G R G V Y L I N N | P N Q I S p.200
. . . . . | 09 . g.51420
CTGGAAGAGAACATTTTGGTCTCCCGTTACATTAACAACCCCCTGCTCATAGATG | ATTTC c.660
L E E N I L V S R Y I N N P L L I D D | F p.220
. . . . . . g.51480
AAGTTTGACGTGCGCCTCTATGTGCTCGTGACTTCCTATGATCCTCTTGTCATCTATCTC c.720
K F D V R L Y V L V T S Y D P L V I Y L p.240
. . | 10 . . . . g.61693
TATGAAGAAGGATTGGCTAG | GTTTGCAACTGTGCGATATGATCAAGGAGCCAAGAACATT c.780
Y E E G L A R | F A T V R Y D Q G A K N I p.260
. . . . . . g.61753
CGGAACCAGTTCATGCATCTGACAAACTACAGTGTCAACAAGAAAAGTGGAGATTACGTC c.840
R N Q F M H L T N Y S V N K K S G D Y V p.280
| 11 . . . . . . g.63585
AG | TTGTGACGATCCAGAAGTGGAGGATTATGGAAACAAATGGAGCATGAGTGCTATGCTT c.900
S | C D D P E V E D Y G N K W S M S A M L p.300
. . . | 12 . . . g.64414
AGGTACCTGAAACAAGAAGGCAGAGATACAACCG | CATTGATGGCCCATGTAGAAGACCTG c.960
R Y L K Q E G R D T T A | L M A H V E D L p.320
. . . . . . g.64474
ATCATTAAGACTATAATCTCTGCTGAACTAGCTATTGCTACTGCCTGTAAAACCTTTGTT c.1020
I I K T I I S A E L A I A T A C K T F V p.340
. . | 13 . . . . g.76168
CCTCATCGCAGCAGTTGTTTTG | AACTCTATGGCTTTGACGTGCTCATAGATTCTACTCTG c.1080
P H R S S C F E | L Y G F D V L I D S T L p.360
. . . . | 14 . . g.77797
AAGCCATGGTTGTTGGAAGTGAATCTCTCTCCTTCTTTGGCCTG | TGATGCGCCTCTGGAC c.1140
K P W L L E V N L S P S L A C | D A P L D p.380
. . . . | 15 . . g.79001
CTAAAGATTAAAGCCAGTATGATTTCAGATATGTTCACTGTTGTAG | GATTTGTGTGCCAA c.1200
L K I K A S M I S D M F T V V G | F V C Q p.400
. . . . . . g.79061
GATCCTGCCCAGCGGGCATCAACTCGGCCAATTTATCCCACCTTTGAGTCTTCCAGGCGA c.1260
D P A Q R A S T R P I Y P T F E S S R R p.420
. . | 16 . . . . g.88926
AACCCTTTCCAGAAACCTCAG | CGTTGCCGTCCACTCTCTGCCAGTGATGCGGAAATGAAA c.1320
N P F Q K P Q | R C R P L S A S D A E M K p.440
. . . . . . g.88986
AACCTCGTGGGCTCAGCCCGGGAGAAAGGGCCAGGGAAGTTGGGTGGTTCTGTGCTTGGT c.1380
N L V G S A R E K G P G K L G G S V L G p.460
. | 17 . . . . . g.89327
CTGTCAATGGAGGAG | ATCAAAGTTTTACGAAGGGTGAAGGAGGAGAATGATCGGCGAGGT c.1440
L S M E E | I K V L R R V K E E N D R R G p.480
. . . . | 18. . g.96698
GGATTTATTCGCATATTTCCTACATCTGAGACATGGGAAATATATGG | GTCCTACCTCGAG c.1500
G F I R I F P T S E T W E I Y G | S Y L E p.500
. . . . . | 19 . g.108417
CATAAGACCTCAATGAACTATATGCTGGCAACACGCCTCTTCCAGGACAG | AATGACTGCT c.1560
H K T S M N Y M L A T R L F Q D R | M T A p.520
. . . . . . g.108477
GATGGAGCGCCAGAATTGAAGATAGAGAGTCTGAATTCAAAGGCCAAGCTGCATGCTGCA c.1620
D G A P E L K I E S L N S K A K L H A A p.540
. . . . . . g.108537
CTTTACGAGAGGAAGCTCCTGTCTCTGGAGGTGCGAAAACGTAGACGACGGAGTAGCAGA c.1680
L Y E R K L L S L E V R K R R R R S S R p.560
. . | 20 . . . g.109886
TTGAGGGCAATGAGGCCAAAATACCCAG | TGATTACCCAACCAGCTGAAATGAATGTTAAA c.1740
L R A M R P K Y P V | I T Q P A E M N V K p.580
. . . . . . g.109946
ACTGAGACAGAGAGTGAAGAGGAGGAAGAAGTCGCATTAGATAATGAAGATGAAGAACAG c.1800
T E T E S E E E E E V A L D N E D E E Q p.600
. . . . . . g.110006
GAGGCTTCCCAGGAGGAGTCTGCAGGATTTCTTAGAGAAAATCAAGCCAAATATACACCC c.1860
E A S Q E E S A G F L R E N Q A K Y T P p.620
. . . . . . g.110066
TCATTGACAGCTTTGGTAGAAAATACACCCAAAGAAAATTCCATGAAAGTTCGTGAATGG c.1920
S L T A L V E N T P K E N S M K V R E W p.640
. . . . . . g.110126
AATAATAAAGGTGGACACTGCTGCAAACTTGAGACTCAGGAGCTAGAGCCTAAATTTAAC c.1980
N N K G G H C C K L E T Q E L E P K F N p.660
. . . | 21 . . . g.115551
CTGATGCAGATTCTTCAAGATAATGGCAATCTTAG | CAAAATGCAGGCCCGAATAGCATTC c.2040
L M Q I L Q D N G N L S | K M Q A R I A F p.680
. . . . . . g.115611
TCTGCCTATCTCCAGCATGTTCAAATTCGCCTGATGAAAGACAGTGGCGGTCAGACGTTC c.2100
S A Y L Q H V Q I R L M K D S G G Q T F p.700
. . . | 22 . . . g.119300
AGTGCCAGTTGGGCTGCCAAAGAGGATGAACAGATG | GAGCTGGTTGTTCGTTTCCTCAAG c.2160
S A S W A A K E D E Q M | E L V V R F L K p.720
. . . . . . g.119360
CGAGCATCAAATAACCTCCAGCATTCACTGAGGATGGTATTACCCAGTCGACGATTGGCA c.2220
R A S N N L Q H S L R M V L P S R R L A p.740
. . . . . . g.119420
CTTCTGGAACGCAGAAGAATCCTGGCCCACCAGCTGGGTGACTTTATCATTGTATACAAC c.2280
L L E R R R I L A H Q L G D F I I V Y N p.760
| 23 . . . . . . g.120596
AAG | GAAACAGAACAAATGGCTGAAAAGAAATCAAAGAAGAAAGTTGAGGAAGAAGAGGAA c.2340
K | E T E Q M A E K K S K K K V E E E E E p.780
. . . . | 24. . g.123380
GATGGGGTGAATATGGAAAACTTTCAGGAGTTCATCAGACAAGCAAG | TGAGGCTGAACTG c.2400
D G V N M E N F Q E F I R Q A S | E A E L p.800
. . . . . . g.123440
GAGGAGGTGTTGACTTTTTATACCCAAAAGAACAAGTCTGCTAGTGTCTTCCTGGGGACT c.2460
E E V L T F Y T Q K N K S A S V F L G T p.820
. . . . . | 25 . g.126284
CACTCTAAAATTTCTAAGAACAACAACAATTATTCTGATAGTGGGGCAAAAGGTG | ATCAC c.2520
H S K I S K N N N N Y S D S G A K G D | H p.840
. . . . . . g.126344
CCTGAGACTATAATGGAAGAAGTGAAAATAAAGCCACCTAAACAGCAACAGACGACAGAA c.2580
P E T I M E E V K I K P P K Q Q Q T T E p.860
. . | 26 . . . . g.126977
ATTCATTCTGATAAATTATCTC | GATTTACCACTTCAGCAGAAAAAGAGGCAAAATTAGTT c.2640
I H S D K L S R | F T T S A E K E A K L V p.880
. . . . . . g.127037
TATAGCAATTCCTCCTCTGGTCCTACTGCTACTCTGCAGAAAATTCCCAACACCCATTTG c.2700
Y S N S S S G P T A T L Q K I P N T H L p.900
. . . . . . g.127097
TCATCTGTTACAACCTCTGACCTCTCTCCAGGGCCTTGCCACCATTCTTCTTTATCTCAA c.2760
S S V T T S D L S P G P C H H S S L S Q p.920
. . . . . . g.127157
ATTCCTTCAGCTATCCCCAGCATGCCTCACCAGCCAACAATTTTACTGAACACAGTCTCT c.2820
I P S A I P S M P H Q P T I L L N T V S p.940
. . . . . . g.127217
GCCAGTGCTTCTCCCTGCCTACATCCCGGGGCACAGAACATCCCAAGCCCTACTGGCCTG c.2880
A S A S P C L H P G A Q N I P S P T G L p.960
. . . . . . g.127277
CCACGCTGTCGATCAGGAAGTCACACCATTGGTCCCTTTTCTTCCTTCCAAAGTGCTGCA c.2940
P R C R S G S H T I G P F S S F Q S A A p.980
. . . . | 27 . . g.136722
CACATCTATAGCCAGAAACTGTCTCGTCCCTCTTCAGCAAAGGCAG | GATCGTGCTATCTA c.3000
H I Y S Q K L S R P S S A K A G | S C Y L p.1000
. . . . . . g.136782
AACAAGCATCATTCAGGAATAGCCAAAACACAAAAAGAGGGAGAAGATGCTTCTTTATAT c.3060
N K H H S G I A K T Q K E G E D A S L Y p.1020
. . . . . . g.136842
AGCAAACGGTACAACCAAAGTATGGTTACAGCTGAACTTCAGCGGCTAGCTGAGAAGCAG c.3120
S K R Y N Q S M V T A E L Q R L A E K Q p.1040
. . . . . | 28 . g.163808
GCAGCGAGACAGTATTCTCCATCCAGCCACATCAACCTCCTCACCCAACAG | GTAACAAAC c.3180
A A R Q Y S P S S H I N L L T Q Q | V T N p.1060
. . . . . . g.163868
CTGAATTTGGCAACTGGCATCATAAACAGAAGCAGTGCTTCAGCTCCCCCAACCCTCCGA c.3240
L N L A T G I I N R S S A S A P P T L R p.1080
. . . . . . g.163928
CCCATCATCAGTCCTAGTGGCCCGACATGGTCTACACAGTCAGACCCCCAAGCTCCCGAG c.3300
P I I S P S G P T W S T Q S D P Q A P E p.1100
. . | 29 . . . . g.207493
AATCACTCCAGCTCTCCTGGAAGCAG | GAGCCTGCAGACAGGGGGATTTGCCTGGGAAGGA c.3360
N H S S S P G S R | S L Q T G G F A W E G p.1120
. . . . . . g.207553
GAAGTAGAAAACAACGTGTACAGCCAGGCTACAGGGGTGGTCCCCCAGCACAAGTATCAC c.3420
E V E N N V Y S Q A T G V V P Q H K Y H p.1140
. . . . . . g.207613
CCCACAGCAGGCAGCTATCAGCTTCAATTTGCCCTGCAGCAACTTGAACAACAAAAACTT c.3480
P T A G S Y Q L Q F A L Q Q L E Q Q K L p.1160
. . . . | 30 . . g.226495
CAGTCCCGGCAGCTCCTGGACCAGAGTCGAGCCCGGCACCAG | GCAATCTTTGGCAGCCAG c.3540
Q S R Q L L D Q S R A R H Q | A I F G S Q p.1180
. . . . . . g.226555
ACACTACCTAACTCCAATTTATGGACAATGAATAATGGTGCAGGTTGTAGAATTTCCAGT c.3600
T L P N S N L W T M N N G A G C R I S S p.1200
. . . . . . g.226615
GCCACAGCTAGTGGCCAGAAGCCAACCACTCTGCCACAAAAAGTGGTACCACCTCCAAGT c.3660
A T A S G Q K P T T L P Q K V V P P P S p.1220
. . . . . . g.226675
TCTTGCGCCTCCCTGGTTCCCAAACCCCCACCCAACCACGAACAAGTGCTCAGAAGGGCA c.3720
S C A S L V P K P P P N H E Q V L R R A p.1240
. . | 31 . . . . g.245974
ACATCCCAGAAAGCTTCCAA | AGGGTCCTCCGCGGAAGGGCAGCTGAATGGACTCCAGAGC c.3780
T S Q K A S K | G S S A E G Q L N G L Q S p.1260
. . . . | 32 . . g.298233
AGCCTTAACCCTGCAGCCTTTGTGCCCATCACCAGCTCTACAG | ATCCTGCTCACACTAAA c.3840
S L N P A A F V P I T S S T D | P A H T K p.1280
g.298239
ATATGA c.3846
I X p.1281
. . . . . . g.298299
accacaaacacacagagaaacaacctgttcaccactcctgggtgcatgattgagggtgaa c.*60
. . . . . . g.298359
gcatccaccagcacttcaaggggtccatagtatttttttttttgctgcctcaaagtcccc c.*120
. . . . . . g.298419
aaagccttcgagcagaagtggcagtagatggttgccaatcagccaatgcagactttcact c.*180
. . . . . . g.298479
gggacaacaagaaagcagatcttctgggttttgatggaacttggcagtggggacattcag c.*240
. . . . . . g.298539
ctgatgcattatataccccgtcagagcacacttgtatcttttaccttccctttgccccat c.*300
. . . . . . g.298599
gcccccaaactgcttaggtcttctctgtccctttactgctgctgcacagagatgatataa c.*360
. . . . . . g.298659
aagaggctctttggctatttgcattttgcttcctcttcttttccagattacagtatgaag c.*420
. . . . . . g.298719
ctttattttctttgtacaagcttaaaatttcaacatcatcatccgccaaagttgttcctc c.*480
. . . . . . g.298779
ccttttcggaggatctagggggaaagaggagcattcatcacaagtttcctagagagagga c.*540
. . . . . . g.298839
gacaaatcggtgtgccattgacaacatgagccagggtaaaggcaccctttggaattactg c.*600
. . . g.298875
atttcaaagattaataaagtaattctatttttattt c.*636
(downstream sequence)
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