(used for variant description)
(last modified August 17, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_024885.3 in the TAF7L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016220.1, covering TAF7L transcript NM_024885.3.
(upstream sequence)
. . g.5026
attttacaaccccaacgaggtgggcc c.-1
. . . . . . g.5086
ATGGAGTGCCCCGAGGGACAGCTCCCCATTTCTTCAGAAAATGATTCAACACCAACAGTT c.60
M E C P E G Q L P I S S E N D S T P T V p.20
. . . . . . g.5146
TCAACATCGGAAGTAACTAGCCAACAAGAACCCCAAATTCTTGTCGACCGTGGGTCTGAA c.120
S T S E V T S Q Q E P Q I L V D R G S E p.40
. . . . . . g.5206
ACCACCTATGAAAGCAGCGCCGACATTGCTGGCGACGAAGGCACCCAGATTCCTGCCGAC c.180
T T Y E S S A D I A G D E G T Q I P A D p.60
. . . . . . g.5266
GAGGACACTCAAACGGATGCGGACAGCAGCGCCCAGGCTGCTGCCCAGGCCCCAGAAAAC c.240
E D T Q T D A D S S A Q A A A Q A P E N p.80
. | 02 . . . . . g.10570
TTCCAGGAAGGGAAAG | ACATGAGTGAAAGCCAGGATGAAGTTCCTGATGAAGTTGAGAAC c.300
F Q E G K D | M S E S Q D E V P D E V E N p.100
. . | 03 . . . . g.11454
CAGTTTATATTGCGTCTGCCTCTG | GAACATGCTTGTACTGTCAGGAACCTAGCACGTTCT c.360
Q F I L R L P L | E H A C T V R N L A R S p.120
. . . . | 04 . . g.14505
CAAAGTGTCAAGATGAAGGATAAACTAAAAATTGACTTATTGC | CTGATGGGCGCCATGCA c.420
Q S V K M K D K L K I D L L P | D G R H A p.140
. . . . . . g.14565
GTTGTTGAAGTAGAAGATGTCCCACTAGCTGCTAAGCTGGTTGACTTGCCTTGTGTTATT c.480
V V E V E D V P L A A K L V D L P C V I p.160
. . . . . | 05. g.15621
GAAAGCCTGAGAACGCTTGATAAAAAAACCTTTTATAAAACAGCAGACATTTCTCAG | ATG c.540
E S L R T L D K K T F Y K T A D I S Q | M p.180
. . . . . . g.15681
CTTGTGTGCACTGCTGATGGTGATATCCACCTTTCTCCAGAAGAACCAGCTGCCTCTACT c.600
L V C T A D G D I H L S P E E P A A S T p.200
. . . . . . g.15741
GATCCTAATATAGTCAGGAAAAAAGAAAGGGGGAGAGAAGAAAAATGTGTCTGGAAGCAT c.660
D P N I V R K K E R G R E E K C V W K H p.220
| 06 . . . . . . g.16352
GGCA | TTACGCCACCACTTAAGAATGTCAGAAAGAAAAGGTTCCGGAAAACACAAAAAAAG c.720
G I | T P P L K N V R K K R F R K T Q K K p.240
| 07 . . . . | 08 . . g.19968
| GTCCCTGATGTCAAAGAAATGGAAAAAAGCAGCTTTACTGAG | TACATTGAATCTCCAGAC c.780
| V P D V K E M E K S S F T E | Y I E S P D p.260
. . . . . | 09 . g.20357
GTGGAAAATGAAGTAAAGAGACTGCTGCGTTCGGATGCTGAAGCCGTAAGTACCC | GTTGG c.840
V E N E V K R L L R S D A E A V S T R | W p.280
. . . . . . g.20417
GAAGTCATTGCTGAAGATGGAACCAAGGAAATAGAAAGTCAAGGCTCCATCCCAGGATTT c.900
E V I A E D G T K E I E S Q G S I P G F p.300
. . . . | 10 . g.21554
TTGATATCCTCGGGAATGAGCAGCCACAAGCAGGGTCATACCTCGTCAG | AATATGATATG c.960
L I S S G M S S H K Q G H T S S E | Y D M p.320
. . . . . . g.21614
CTTCGGGAGATGTTCAGTGATTCTAGAAGTAACAATGATGATGATGAGGATGAGGATGAT c.1020
L R E M F S D S R S N N D D D E D E D D p.340
. . . . . . g.21674
GAAGATGAGGATGAGGATGAGGATGAGGATGAAGATGAAGACAAAGAAGAGGAGGAGGAA c.1080
E D E D E D E D E D E D E D K E E E E E p.360
. . . . . . g.21734
GATTGTTCTGAAGAGTATCTGGAAAGGCAGCTGCAGGCCGAGTTTATTGAATCTGGCCAG c.1140
D C S E E Y L E R Q L Q A E F I E S G Q p.380
. . . | 11 . . . g.21988
TATAGGGCAAATGAAGGTACCAGTTCAATAG | TCATGGAAATTCAGAAGCAGATTGAGAAA c.1200
Y R A N E G T S S I V | M E I Q K Q I E K p.400
. . . . . . g.22048
AAGGAGAAAAAGCTCCATAAGATTCAGAATAAAGCACAAAGACAGAAGGATCTCATCATG c.1260
K E K K L H K I Q N K A Q R Q K D L I M p.420
. . | 12 . . . . g.22826
AAAGTGGAAAACCTGACACTCAAG | AATCATTTTCAGTCTGTGCTGGAGCAGCTTGAGTTA c.1320
K V E N L T L K | N H F Q S V L E Q L E L p.440
. . | 13 . . . . g.28870
CAGGAAAAACAAAAAAATGAGAAG | CTCATTTCCCTACAGGAACAGTTGCAGCGTTTTCTG c.1380
Q E K Q K N E K | L I S L Q E Q L Q R F L p.460
g.28879
AAGAAGTGA c.1389
K K X p.462
. . . . . . g.28939
ggagagccattggcgtggcccacaaaccttggattcaccatccagactgcagattggatg c.*60
. . . . . . g.28999
aaactgtgcacgtttttgtcccttcagttgccttatgttgaatcagttatatttatctgt c.*120
. . . . . . g.29059
accttctttgctacttaaaatatgctcacagtttgtagtcatgtagaaaaggccagtata c.*180
. . . . . . g.29119
aaaatgtagtagacttaaagaccccactcgaccatgagactttctctttgtcaatttggg c.*240
. . . . . . g.29179
aattattattattaatttagaaatggggtcttgttatgttgcccaggctgaattcagact c.*300
. . . . . . g.29239
cctgggcttaagggatccttccgcctcagcctcctgagtagctgggactacagttgtgca c.*360
. . . . . . g.29299
ccaccacaccaaacaagaattgattatattgcttctgtgctatggtaccagcagattatt c.*420
. . . . . . g.29359
cagccatgcttctaaaggcagtctagcctagaggccgtacagctgtttggtttgcatatg c.*480
. . . . . . g.29419
ttttagcttttcttttggtttttagtatttcctaaaacataggggaaaaaacgaggtcat c.*540
. . . . . . g.29479
ttctactaagcactaggacctgccatagtgagtttaagtgcctaccttgcagcagttaat c.*600
. . . . . . g.29539
actagattgtgttctgtctctgttcaggtaacaggactgcattcctgctcaaggatgatt c.*660
. . . . . . g.29599
ccttgctgctgcttatgttctgttgtttttaggatggagctggttgttattcaccaacta c.*720
. . . . . . g.29659
agggaacagttagagcagagatgaagaaattatgaactgttatccttattctgagccttc c.*780
. . . . . . g.29719
tcctcctaaccctcatcagttaaggttaggaagaacaagatgccataatgcctatgaaga c.*840
. . . . . . g.29779
cttctttaacaatcttgtttgggtttttttctaggtatattattagtgttttatggtcta c.*900
. . . . g.29819
tgttctttaagcaataaataaattgttcattttaaatgga c.*940
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center