(used for variant description)
(last modified October 25, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_004260.3 in the RECQL4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016430.1, covering RECQL4 transcript NM_004260.3.
(upstream sequence)
. . . . g.5042
ctggacgatcgcaagcgcggaggccgggcgggcgcgcgcgcc c.-1
. . . . . . g.5102
ATGGAGCGGCTGCGGGACGTGCGGGAGCGGCTGCAGGCGTGGGAGCGCGCGTTCCGACGG c.60
M E R L R D V R E R L Q A W E R A F R R p.20
. . | 02 . . . | 03 g.5320
CAGCGCGGGCGGCGACCGAGCCAG | GACGACGTGGAGGCGGCGCCGGAGGAGACCCGCG | CG c.120
Q R G R R P S Q | D D V E A A P E E T R A | p.40
. . . . . . g.5380
CTCTACCGGGAATACCGCACTCTGAAGCGTACCACGGGCCAGGCCGGCGGCGGGCTCCGC c.180
L Y R E Y R T L K R T T G Q A G G G L R p.60
. . . | 04 . . . g.5663
AGCTCCGAGTCGCTCCCCGCGGCGGCCGAAGAG | GCGCCAGAGCCCCGCTGCTGGGGGCCC c.240
S S E S L P A A A E E | A P E P R C W G P p.80
. . . . . . g.5723
CATCTGAATCGGGCTGCGACCAAGAGTCCACAGCCTACGCCAGGGCGGAGCCGCCAGGGC c.300
H L N R A A T K S P Q P T P G R S R Q G p.100
. . . . . | 05 . g.6068
TCGGTGCCGGACTACGGGCAGCGGCTCAAGGCCAATCTGAAAGGCACCCTGCAG | GCCGGA c.360
S V P D Y G Q R L K A N L K G T L Q | A G p.120
. . . . . . g.6128
CCAGCCCTGGGCCGCAGACCGTGGCCTCTAGGAAGAGCCTCATCTAAGGCATCCACCCCA c.420
P A L G R R P W P L G R A S S K A S T P p.140
. . . . . . g.6188
AAGCCCCCAGGTACAGGGCCTGTCCCCTCCTTTGCAGAAAAAGTCAGTGATGAGCCTCCA c.480
K P P G T G P V P S F A E K V S D E P P p.160
. . . . . . g.6248
CAGCTCCCTGAGCCCCAGCCAAGGCCAGGCCGGCTCCAGCATCTGCAGGCATCCCTGAGC c.540
Q L P E P Q P R P G R L Q H L Q A S L S p.180
. . . . . . g.6308
CAGCGGCTGGGCTCCCTAGATCCTGGCTGGTTACAGCGATGTCACAGTGAGGTCCCAGAT c.600
Q R L G S L D P G W L Q R C H S E V P D p.200
. . . . . . g.6368
TTTCTGGGGGCCCCCAAAGCCTGCAGGCCTGATCTAGGCTCAGAGGAATCACAACTTCTG c.660
F L G A P K A C R P D L G S E E S Q L L p.220
. . . . . . g.6428
ATCCCTGGTGAGTCGGCTGTCCTTGGTCCTGGTGCTGGCTCCCAGGGCCCAGAGGCTTCA c.720
I P G E S A V L G P G A G S Q G P E A S p.240
. . . . . . g.6488
GCCTTCCAAGAAGTCAGCATCCGTGTGGGGAGCCCCCAGCCCAGCAGCAGTGGAGGCGAG c.780
A F Q E V S I R V G S P Q P S S S G G E p.260
. . . . . . g.6548
AAGCGGAGATGGAACGAGGAGCCCTGGGAGAGCCCCGCACAGGTCCAGCAGGAGAGCAGC c.840
K R R W N E E P W E S P A Q V Q Q E S S p.280
. . . . . . g.6608
CAAGCTGGACCCCCATCGGAGGGGGCTGGGGCTGTAGCAGTTGAGGAAGACCCTCCAGGG c.900
Q A G P P S E G A G A V A V E E D P P G p.300
. . . . . . g.6668
GAACCTGTACAGGCACAGCCACCTCAGCCCTGCAGCAGCCCATCGAACCCCAGGTACCAC c.960
E P V Q A Q P P Q P C S S P S N P R Y H p.320
. . . . . . g.6728
GGACTCAGCCCCTCCAGTCAAGCTAGGGCTGGGAAGGCTGAGGGCACAGCCCCCCTGCAC c.1020
G L S P S S Q A R A G K A E G T A P L H p.340
. . . . . . g.6788
ATCTTCCCTCGGCTGGCCCGCCATGACAGGGGCAATTACGTACGGCTCAACATGAAGCAG c.1080
I F P R L A R H D R G N Y V R L N M K Q p.360
. . . . . | 06 . g.6945
AAACACTACGTGCGGGGCCGGGCACTCCGTAGCAGGCTCCTCCGCAAGCAG | GCATGGAAG c.1140
K H Y V R G R A L R S R L L R K Q | A W K p.380
. . . . . . g.7005
CAGAAGTGGCGGAAGAAAGGGGAGTGTTTTGGGGGTGGTGGTGCCACAGTCACAACCAAG c.1200
Q K W R K K G E C F G G G G A T V T T K p.400
. . . . . | 07 g.7371
GAGTCTTGTTTCCTGAACGAGCAGTTCGATCACTGGGCAGCCCAGTGTCCCCGGCCAG | CA c.1260
E S C F L N E Q F D H W A A Q C P R P A | p.420
. . . . . . g.7431
AGTGAGGAAGACACAGATGCTGTTGGGCCTGAGCCACTGGTTCCTTCACCACAACCTGTA c.1320
S E E D T D A V G P E P L V P S P Q P V p.440
. . . . . . g.7491
CCTGAGGTGCCCAGCCTGGACCCCACCGTGCTGCCACTCTACTCCCTGGGGCCCTCAGGG c.1380
P E V P S L D P T V L P L Y S L G P S G p.460
. | 08 . . . . . g.7634
CAGTTGGCAG | AGACGCCGGCTGAGGTGTTCCAGGCCCTGGAGCAGCTGGGGCACCAAGCC c.1440
Q L A E | T P A E V F Q A L E Q L G H Q A p.480
. . . . | 09 . . g.7771
TTTCGCCCTGGGCAGGAGCGTGCAGTCATGCGGATCCTGTCTG | GCATCTCCACGCTGCTG c.1500
F R P G Q E R A V M R I L S G | I S T L L p.500
. . . . . . g.7831
GTGCTGCCTACAGGTGCCGGCAAGTCCCTGTGCTACCAGCTCCCAGCGCTGCTCTACAGC c.1560
V L P T G A G K S L C Y Q L P A L L Y S p.520
. . . . . . g.7891
CGGCGCAGCCCCTGCCTCACGTTGGTCGTCTCTCCCCTGCTGTCACTCATGGATGACCAG c.1620
R R S P C L T L V V S P L L S L M D D Q p.540
| 10 . . . . . . g.8361
| GTGTCTGGCCTGCCACCGTGTCTCAAGGCGGCCTGCATACACTCGGGCATGACCAGGAAG c.1680
| V S G L P P C L K A A C I H S G M T R K p.560
. . | 11 . . . . g.8500
CAACGGGAATCTGTCCTGCAGAAG | ATTCGGGCAGCCCAGGTACACGTGCTGATGCTGACA c.1740
Q R E S V L Q K | I R A A Q V H V L M L T p.580
. . . . . . g.8560
CCTGAGGCACTGGTGGGGGCGGGAGGCCTCCCTCCAGCCGCACAGCTGCCTCCAGTTGCT c.1800
P E A L V G A G G L P P A A Q L P P V A p.600
. . . . . . g.8620
TTTGCCTGCATTGATGAGGCCCACTGCCTCTCCCAGTGGTCCCACAACTTCCGGCCCTGC c.1860
F A C I D E A H C L S Q W S H N F R P C p.620
. | 12 . . . . g.8761
TACCTGCGCGTCTGCAAG | GTGCTTCGGGAGCGCATGGGCGTGCACTGCTTCCTGGGCCTC c.1920
Y L R V C K | V L R E R M G V H C F L G L p.640
. . . . . . g.8821
ACAGCCACAGCCACACGCCGCACTGCCAGTGACGTGGCACAGCACCTGGCTGTGGCTGAA c.1980
T A T A T R R T A S D V A Q H L A V A E p.660
. . . . . . g.8881
GAGCCTGACCTCCACGGGCCAGCCCCAGTTCCCACCAACCTGCACCTTTCCGTGTCCATG c.2040
E P D L H G P A P V P T N L H L S V S M p.680
. | 13 . . . . g.9156
GACAGGGACACAGACCAG | GCACTGTTGACGCTGCTGCAAGGCAAACGTTTTCAAAACCTC c.2100
D R D T D Q | A L L T L L Q G K R F Q N L p.700
. . . . . . g.9216
GATTCCATTATCATTTACTGCAACCGGCGCGAGGACACAGAGCGGATCGCTGCGCTCCTC c.2160
D S I I I Y C N R R E D T E R I A A L L p.720
. . . . | 14 . . g.9366
CGAACCTGCCTGCACGCAGCCTGGGTCCCAGGGTCTGGAG | GTCGTGCCCCCAAAACCACA c.2220
R T C L H A A W V P G S G G | R A P K T T p.740
. . . . . . g.9426
GCCGAGGCCTACCACGCGGGCATGTGCAGCCGGGAACGGCGGCGGGTACAGCGAGCCTTC c.2280
A E A Y H A G M C S R E R R R V Q R A F p.760
. . . . . . g.9486
ATGCAGGGCCAGTTGCGGGTGGTGGTGGCCACGGTGGCCTTTGGGATGGGGCTGGACCGG c.2340
M Q G Q L R V V V A T V A F G M G L D R p.780
. . . . . . g.9546
CCAGATGTGCGGGCTGTGCTGCATCTGGGGCTGCCCCCAAGCTTCGAGAGCTACGTGCAG c.2400
P D V R A V L H L G L P P S F E S Y V Q p.800
. . . . . . g.9606
GCCGTGGGCCGGGCCGGGCGTGACGGGCAGCCTGCCCACTGCCACCTCTTCCTGCAGCCC c.2460
A V G R A G R D G Q P A H C H L F L Q P p.820
| 15 . . . . . . g.9745
CAG | GGCGAAGACCTGCGAGAGCTGCGCAGACATGTGCACGCCGACAGCACGGACTTCCTG c.2520
Q | G E D L R E L R R H V H A D S T D F L p.840
. . . . . . g.9805
GCTGTGAAGAGGCTGGTACAGCGCGTGTTCCCAGCCTGCACCTGCACCTGCACCAGGCCG c.2580
A V K R L V Q R V F P A C T C T C T R P p.860
. . . . . . g.9865
CCCTCGGAGCAGGAAGGGGCCGTGGGTGGGGAGAGGCCTGTGCCCAAGTACCCCCCTCAA c.2640
P S E Q E G A V G G E R P V P K Y P P Q p.880
. . . . . . g.9925
GAGGCTGAGCAGCTTAGCCACCAAGCAGCCCCAGGACCCAGAAGGGTCTGCATGGGCCAT c.2700
E A E Q L S H Q A A P G P R R V C M G H p.900
. . . . . | 16 . g.10060
GAGCGGGCACTCCCAATACAGCTTACCGTACAGGCTTTGGACATGCCGGAGGAGG | CCATC c.2760
E R A L P I Q L T V Q A L D M P E E A | I p.920
. . . . . . g.10120
GAGACTTTGCTGTGCTACCTGGAGCTGCACCCACACCACTGGCTGGAGCTGCTGGCGACC c.2820
E T L L C Y L E L H P H H W L E L L A T p.940
. . . . . . g.10180
ACCTATACCCATTGCCGTCTGAACTGCCCTGGGGGCCCTGCCCAGCTCCAGGCCCTGGCC c.2880
T Y T H C R L N C P G G P A Q L Q A L A p.960
| 17 . . . . . . g.10320
CACAG | GTGTCCCCCTTTGGCTGTGTGCTTGGCCCAGCAGCTGCCTGAGGACCCAGGGCAA c.2940
H R | C P P L A V C L A Q Q L P E D P G Q p.980
. . . . . . g.10380
GGCAGCAGCTCCGTGGAGTTTGACATGGTCAAGCTGGTGGACTCCATGGGCTGGGAGCTG c.3000
G S S S V E F D M V K L V D S M G W E L p.1000
. . . . . | 18 . g.10507
GCCTCTGTGCGGCGGGCTCTCTGCCAGCTGCAGTGGGACCACGAGCCCAGGACAG | GTGTG c.3060
A S V R R A L C Q L Q W D H E P R T G | V p.1020
. . . . . . g.10567
CGGCGTGGGACAGGGGTGCTTGTGGAGTTCAGTGAGCTGGCCTTCCACCTTCGCAGCCCG c.3120
R R G T G V L V E F S E L A F H L R S P p.1040
. . . . . . g.10627
GGGGACCTGACCGCTGAGGAGAAGGACCAGATATGTGACTTCCTCTATGGCCGTGTGCAG c.3180
G D L T A E E K D Q I C D F L Y G R V Q p.1060
. . . . . | 19 . g.10763
GCCCGGGAGCGCCAGGCCCTGGCCCGTCTGCGCAGAACCTTCCAGGCCTTTCACAG | CGTA c.3240
A R E R Q A L A R L R R T F Q A F H S | V p.1080
. . . . . . g.10823
GCCTTCCCCAGCTGCGGGCCCTGCCTGGAGCAGCAGGATGAGGAGCGCAGCACCAGGCTC c.3300
A F P S C G P C L E Q Q D E E R S T R L p.1100
. . . . . . g.10883
AAGGACCTGCTCGGCCGCTACTTTGAGGAAGAGGAAGGGCAGGAGCCGGGAGGCATGGAG c.3360
K D L L G R Y F E E E E G Q E P G G M E p.1120
. . . | 20 . . . g.11064
GACGCACAGGGCCCCGAGCCAGGGCAGGCCAGA | CTCCAGGATTGGGAGGACCAGGTCCGC c.3420
D A Q G P E P G Q A R | L Q D W E D Q V R p.1140
. . . . . . g.11124
TGCGACATCCGCCAGTTCCTGTCCCTGAGGCCAGAGGAGAAGTTCTCCAGCAGGGCTGTG c.3480
C D I R Q F L S L R P E E K F S S R A V p.1160
. . | 21 . . . . g.11309
GCCCGCATCTTCCACGGCATCG | GAAGCCCCTGCTACCCGGCCCAGGTGTACGGGCAGGAC c.3540
A R I F H G I G | S P C Y P A Q V Y G Q D p.1180
. . . . . . g.11369
CGACGCTTCTGGAGAAAATACCTGCACCTGAGCTTCCATGCCCTGGTGGGCCTGGCCACG c.3600
R R F W R K Y L H L S F H A L V G L A T p.1200
. . g.11396
GAAGAGCTCCTGCAGGTGGCCCGCTGA c.3627
E E L L Q V A R X p.1208
. . . . . . g.11456
ctgcactgcattgggggatgtcgggtagagctggggttgtcagaggctagggcagtgact c.*60
. . . . . . g.11516
gaggacctgggcaaaacctgccacagggtgtgggaacgaggaggctccaaaatgcagaat c.*120
. . g.11543
aaaaaatgctcactttgtttttatggg c.*147
(downstream sequence)
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