(used for variant description)
(last modified December 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004259.6 in the RECQL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029617.1, covering RECQL5 transcript NM_004259.6.
(upstream sequence)
. . . . g.5040
acggatataagattgcgtgggttctgcctaaagctgaatt c.-121
. . . . . . g.5100
cccagcgctttggcttctctgagttggggttgtgtataggggtcttcgaacagttccgga c.-61
. . . . . | 02 . g.5632
accagccagcagcctttaattcttgggcggaccacggccggttctg | tgttcttggctaag c.-1
. . . . . . g.5692
ATGAGCAGCCACCATACCACCTTTCCTTTTGACCCTGAGCGGCGAGTCCGGAGTACGCTG c.60
M S S H H T T F P F D P E R R V R S T L p.20
. . . . . . g.5752
AAGAAGGTCTTTGGGTTTGACTCTTTTAAGACGCCTTTACAGGAGAGTGCGACCATGGCT c.120
K K V F G F D S F K T P L Q E S A T M A p.40
. | 03 . . . . . g.7067
GTAGTAAAAG | GTAACAAGGACGTCTTTGTGTGCATGCCCACAGGGGCAGGAAAATCCCTA c.180
V V K G | N K D V F V C M P T G A G K S L p.60
. . . . . . g.7127
TGCTATCAGCTCCCTGCTCTGTTGGCCAAAGGCATCACCATTGTAGTCTCTCCTCTCATT c.240
C Y Q L P A L L A K G I T I V V S P L I p.80
. | 04 . . . . . g.9240
GCTTTGATTCAG | GACCAAGTGGACCACTTGCTAACCCTAAAGGTACGAGTAAGTTCCCTG c.300
A L I Q | D Q V D H L L T L K V R V S S L p.100
. . . . . . g.9300
AACTCGAAGCTCTCTGCACAGGAAAGGAAGGAGCTGCTTGCTGACCTGGAGCGAGAAAAG c.360
N S K L S A Q E R K E L L A D L E R E K p.120
. . . . . . g.9360
CCCCAGACCAAGATTCTGTACATCACCCCAGAGATGGCAGCTTCATCCTCCTTCCAGCCC c.420
P Q T K I L Y I T P E M A A S S S F Q P p.140
. . . . . . g.9420
ACCCTGAACTCCCTGGTGTCCCGCCACCTGCTGTCTTACTTGGTGGTGGATGAAGCTCAT c.480
T L N S L V S R H L L S Y L V V D E A H p.160
. . . . . . g.9480
TGTGTTTCCCAATGGGGGCATGACTTTCGTCCTGACTACTTGCGTCTGGGTGCCCTGCGC c.540
C V S Q W G H D F R P D Y L R L G A L R p.180
. . . . . . g.9540
TCCCGCCTGGGACATGCCCCTTGTGTGGCTCTGACCGCCACAGCCACCCCACAGGTCCAA c.600
S R L G H A P C V A L T A T A T P Q V Q p.200
. . . . . . g.9600
GAGGACGTGTTTGCTGCCCTGCACCTGAAGAAACCAGTTGCCATCTTCAAGACTCCCTGC c.660
E D V F A A L H L K K P V A I F K T P C p.220
. . . . . . g.9660
TTCCGGGCCAACCTCTTCTATGATGTGCAATTCAAGGAACTGATTTCTGATCCCTATGGG c.720
F R A N L F Y D V Q F K E L I S D P Y G p.240
. . . . . | 05 . g.10490
AACCTGAAGGACTTCTGCCTTAAGGCTCTTGGACAGGAGGCTGATAAAGGG | TTATCTGGC c.780
N L K D F C L K A L G Q E A D K G | L S G p.260
. . . . . . g.10550
TGCGGCATTGTGTACTGCAGGACTAGAGAGGCTTGTGAACAGCTGGCCATAGAGCTCAGC c.840
C G I V Y C R T R E A C E Q L A I E L S p.280
. . . | 06 . . . g.11149
TGCAGGGGTGTGAACGCCAAGGCTTACCATGCAG | GGCTGAAGGCCTCTGAAAGAACGCTG c.900
C R G V N A K A Y H A G | L K A S E R T L p.300
. . . . . . g.11209
GTGCAGAACGACTGGATGGAGGAGAAGGTCCCTGTAATTGTTGCAACCATTAGTTTTGGG c.960
V Q N D W M E E K V P V I V A T I S F G p.320
. . | 07 . . . . g.13763
ATGGGAGTGGATAAAGCCAATGTCAG | GTTTGTCGCCCATTGGAATATTGCCAAGTCTATG c.1020
M G V D K A N V R | F V A H W N I A K S M p.340
. . . . . . g.13823
GCTGGGTACTACCAGGAGTCTGGCCGGGCTGGCAGGGATGGGAAGCCTTCCTGGTGCCGT c.1080
A G Y Y Q E S G R A G R D G K P S W C R p.360
. . . . . . g.13883
CTCTATTACTCCAGGAATGACCGGGACCAAGTCAGCTTCCTGATCAGGAAGGAAGTAGCA c.1140
L Y Y S R N D R D Q V S F L I R K E V A p.380
| 08 . . . . . g.20975
AAACTCCAG | GAAAAGAGAGGAAACAAAGCATCTGATAAAGCCACTATCATGGCCTTTGAT c.1200
K L Q | E K R G N K A S D K A T I M A F D p.400
. . | 09 . . . g.40552
GCCCTGGTGACCTTCTGTGAAGAACTGGG | GTGCCGCCATGCCGCCATTGCCAAGTACTTC c.1260
A L V T F C E E L G | C R H A A I A K Y F p.420
. . . . . . g.40612
GGGGATGCGCTGCCTGCCTGCGCCAAAGGCTGCGACCACTGCCAGAACCCCACGGCCGTG c.1320
G D A L P A C A K G C D H C Q N P T A V p.440
. . . . . . g.40672
CGGAGGCGGCTGGAGGCCTTGGAGCGCAGCAGCAGCTGGAGCAAGACCTGCATCGGGCCC c.1380
R R R L E A L E R S S S W S K T C I G P p.460
. . . . . . g.40732
TCCCAGGGGAACGGCTTTGACCCCGAGCTGTACGAGGGAGGCCGCAAGGGCTACGGGGAC c.1440
S Q G N G F D P E L Y E G G R K G Y G D p.480
| 10 . . . . . g.40992
TTCAGCAG | GTATGACGAAGGTTCTGGAGGCAGCGGGGATGAAGGCAGAGATGAGGCCCAC c.1500
F S R | Y D E G S G G S G D E G R D E A H p.500
. . . . | 11 . g.41191
AAGCGGGAGTGGAACCTCTTCTATCAGAAGCAGATGCAGCTGCGCAAG | GGCAAAGACCCC c.1560
K R E W N L F Y Q K Q M Q L R K | G K D P p.520
. . | 12 . . . . g.41387
AAGATAGAAGAATTTGTACCCCCAG | ATGAGAACTGTCCCCTGAAAGAGGCTTCTAGCAGG c.1620
K I E E F V P P D | E N C P L K E A S S R p.540
. . | 13 . . . . g.41533
AGGATCCCCAGGCTGACTGTGAAG | GCACGGGAGCACTGCCTGCGGCTTCTGGAGGAGGCG c.1680
R I P R L T V K | A R E H C L R L L E E A p.560
. . . | 14 . . g.41934
CTGAGCAGCAACCGCCAGTCAACACGTACCGCTGATGA | AGCTGACCTCCGGGCCAAGGCC c.1740
L S S N R Q S T R T A D E | A D L R A K A p.580
. . . . . . g.41994
GTGGAGCTGGAACATGAGACATTCCGGAACGCCAAGGTGGCCAACCTCTACAAGGCCAGC c.1800
V E L E H E T F R N A K V A N L Y K A S p.600
. | 15 . . . . . g.42395
GTGCTGAAGAAG | GTGGCCGATATCCACAGAGCCTCCAAGGATGGGCAGCCCTATGACATG c.1860
V L K K | V A D I H R A S K D G Q P Y D M p.620
. . . . . . g.42455
GGAGGCAGTGCCAAGAGCTGCAGTGCCCAAGCTGAGCCCCCGGAGCCCAATGAGTATGAC c.1920
G G S A K S C S A Q A E P P E P N E Y D p.640
. . | 16. . . . g.42747
ATTCCACCAGCCTCCCATGTGTACTCG | CTCAAACCCAAGCGGGTGGGAGCTGGTTTCCCC c.1980
I P P A S H V Y S | L K P K R V G A G F P p.660
. . . . . . g.42807
AAAGGCTCCTGCCCGTTCCAGACGGCCACGGAACTGATGGAGACGACTCGGATCAGGGAG c.2040
K G S C P F Q T A T E L M E T T R I R E p.680
. . . . . . g.42867
CAAGCCCCCCAGCCCGAGCGGGGAGGCGAGCACGAGCCCCCGAGCCGGCCCTGTGGCCTC c.2100
Q A P Q P E R G G E H E P P S R P C G L p.700
. . . . . . g.42927
CTGGATGAGGATGGGAGTGAGCCCCTCCCTGGGCCCAGAGGGGAGGTCCCTGGAGGCAGC c.2160
L D E D G S E P L P G P R G E V P G G S p.720
. . . . . . g.42987
GCTCACTATGGGGGGCCCTCCCCTGAGAAGAAGGCAAAAAGTTCCTCTGGGGGCAGCTCC c.2220
A H Y G G P S P E K K A K S S S G G S S p.740
. . . . . . g.43047
CTTGCCAAGGGCCGGGCTAGCAAGAAACAGCAGCTCCTAGCCACAGCGGCCCACAAGGAT c.2280
L A K G R A S K K Q Q L L A T A A H K D p.760
. . . . . . g.43107
TCTCAGAGCATCGCCCGCTTCTTCTGCCGAAGGGTGGAAAGCCCAGCTCTGCTGGCATCA c.2340
S Q S I A R F F C R R V E S P A L L A S p.780
. . . . . . g.43167
GCCCCAGAGGCAGAAGGTGCCTGCCCCTCCTGTGAGGGGGTTCAGGGACCCCCGATGGCC c.2400
A P E A E G A C P S C E G V Q G P P M A p.800
. . . . . . g.43227
CCAGAGAAGTACACAGGGGAGGAAGATGGAGCCGGGGGACATTCGCCTGCCCCTCCCCAG c.2460
P E K Y T G E E D G A G G H S P A P P Q p.820
. . | 17 . . . g.43458
ACTGAGGAGTGCCTCAGGGAGAGGCCAAG | CACCTGCCCGCCCAGAGACCAGGGCACCCCT c.2520
T E E C L R E R P S | T C P P R D Q G T P p.840
. . . . . . g.43518
GAAGTCCAGCCCACCCCTGCAAAGGACACATGGAAGGGCAAGCGGCCTCGATCCCAGCAG c.2580
E V Q P T P A K D T W K G K R P R S Q Q p.860
| 18 . . . . . . g.43807
| GAGAACCCAGAGAGCCAGCCTCAGAAGAGGCCACGCCCCTCAGCCAAGCCCTCCGTCGTA c.2640
| E N P E S Q P Q K R P R P S A K P S V V p.880
. . . . . . g.43867
GCTGAGGTCAAGGGCAGCGTCTCGGCCAGCGAACAGGGCACCTTGAATCCCACGGCTCAA c.2700
A E V K G S V S A S E Q G T L N P T A Q p.900
. . . . . . g.43927
GACCCCTTCCAGCTCTCCGCTCCTGGCGTCTCCTTGAAGGAGGCTGCAAATGTTGTGGTC c.2760
D P F Q L S A P G V S L K E A A N V V V p.920
. . . . | 19 . . g.44512
AAGTGCCTCACCCCTTTCTACAAGGAGGGCAAGTTTGCTTCCAAG | GAGTTGTTTAAAGGC c.2820
K C L T P F Y K E G K F A S K | E L F K G p.940
. . . . . | 20 . g.44672
TTTGCCCGCCACCTCTCACACTTGCTGACTCAGAAGACCTCTCCTGGAAGGAGCG | TGAAA c.2880
F A R H L S H L L T Q K T S P G R S V | K p.960
. . . . . . g.44732
GAAGAGGCCCAGAACCTCATCAGGCACTTCTTCCATGGCCGGGCCCGGTGCGAGAGCGAA c.2940
E E A Q N L I R H F F H G R A R C E S E p.980
. . . g.44768
GCTGACTGGCATGGCCTGTGTGGCCCCCAGAGATGA c.2976
A D W H G L C G P Q R X p.991
. . . . . . g.44828
ccaactgctggctgggcagggcccgcgtcctcccccagattctagcatgggtcatcctgg c.*60
. . . . . . g.44888
gcctcacctgctgatgccagggccatcgtcttttctcagtccttctcctttccaaccata c.*120
. . . . . . g.44948
cttggctttggggatgaccccagacaccccctgaatccaggtcagaggtcagcccacctt c.*180
. . . . . . g.45008
tctttctgcttgcaaagcctatagacccttctcagagcggtcctcatggctgggttttct c.*240
. . . . . . g.45068
gggacacatgtcgaggacagaaggtggagggtggtggagctgctgctggaagaaggggaa c.*300
. . . . . . g.45128
ggaagagtggcccctccccgagttctaagtcaggatgaggcccacctgtccaaggtatcg c.*360
. . . . . . g.45188
gaacctacccaggggaccctcagatcctccacccactcccccatccattacgatgccagc c.*420
. . . . . . g.45248
ttccagccttgcccaggtcagagctgtggcagaggagaggcagccaggccctgttcctgc c.*480
. . . . . . g.45308
tcagctcctgctcaggaaggccaggcctgacagatgtttgggagaggaataaagttgtgt c.*540
. . . g.45345
tgttgtggggcatgcaggcgtgcacacagcccttttc c.*577
(downstream sequence)
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