(used for variant description)
(last modified December 30, 2019)
This file was created to facilitate the description of sequence variants in the DYSF gene based on a coding DNA reference sequence. To strictly follow the HGVS recommendations the coding DNA reference sequence should include all exons that still give a transcript with an open reading frame. However, originally variants in the DYSF gene have been described using transcript variant 8 (NM_003494.3) as a reference and we use this transcript in the database. NOTE transcript does not include alternatively spliced exons 5b and 40b that were discovered later.
Intron 1 contains an alternative promoter/first exon (exon
1b) encoding a unique 30 amino acid N-terminal sequence. Exon 17 and
49/50 are also alternatively spliced. Pramono
et
al (2009) measured transcript levels of all these forms largely
differing in relative frequencies between skeletal muscle and blood.
(upstream sequence)
. g.5016
gcggccgccgcccagc c.-361
. . . . . . g.5076
caggtgcaaaatgccgtgtcattgggagactccgcagccggagcattagattacagctcg c.-301
. . . . . . g.5136
acggagctcgggaagggcggcgggggtggaagatgagcagaagcccctgttctcggaacg c.-241
. . . . . . g.5196
ccggctgacaagcggggtgagcgcagccggggcggggacccagcctagcccactggagca c.-181
. . . . . . g.5256
gccgggggtggcccgttcccctttaagagcaactgctctaagccaggagccagagattcg c.-121
. . . . . . g.5316
agccggcctcgcccagccagccctctccagcgaggggacccacaagcggcgcctcggccc c.-61
. . . . . . g.5376
tcccgacctttccgagccctctttgcgccctgggcgcacggggccctacacgcgccaagc c.-1
. . . . . . g.5436
ATGCTGAGGGTCTTCATCCTCTATGCCGAGAACGTCCACACACCCGACACCGACATCAGC c.60
M L R V F I L Y A E N V H T P D T D I S p.20
. . | 02 . . . g.32292
GATGCCTACTGCTCCGCGGTGTTTGCAG | GGGTGAAGAAGAGAACCAAAGTCATCAAGAAC c.120
D A Y C S A V F A G | V K K R T K V I K N p.40
^ alternatively promoter/first exon 01b
. . | 03 . . . . g.33292
AGCGTGAACCCTGTATGGAATGAG | GGATTTGAATGGGACCTCAAGGGCATCCCCCTGGAC c.180
S V N P V W N E | G F E W D L K G I P L D p.60
. . . . . | 04 . g.54595
CAGGGCTCTGAGCTTCATGTGGTGGTCAAAGACCATGAGACGATGGGGAGGAACAG | GTTC c.240
Q G S E L H V V V K D H E T M G R N R | F p.80
. . . . . . g.54655
CTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCCTAGTCTGTCCGCCAGC c.300
L G E A K V P L R E V L A T P S L S A S p.100
. . . . | 05 . . g.63202
TTCAATGCCCCCCTGCTGGACACCAAGAAGCAGCCCACAGGG | GCCTCGCTGGTCCTGCAG c.360
F N A P L L D T K K Q P T G | A S L V L Q p.120
. . . . . . g.63262
GTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTGGAG c.420
V S Y T P L P G A V P L F P P P T P L E p.140
. . . | 06. . . g.65116
CCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAG | ACACAGGAGGAGAGGAAGACACA c.480
P S P T L P D L D V V A D | T G G E E D T p.160
^ alternatively spliced exon 05b
. . . . . . g.65176
GAGGACCAGGGACTCACTGGAGATGAGGCGGAGCCATTCCTGGATCAAAGCGGAGGCCCG c.540
E D Q G L T G D E A E P F L D Q S G G P p.180
. . . . . . g.65236
GGGGCTCCCACCACCCCAAGGAAACTACCTTCACGTCCTCCGCCCCACTACCCCGGGATC c.600
G A P T T P R K L P S R P P P H Y P G I p.200
. . . . . . g.65296
AAAAGAAAGCGAAGTGCGCCTACATCTAGAAAGCTGCTGTCAGACAAACCGCAGGATTTC c.660
K R K R S A P T S R K L L S D K P Q D F p.220
| 07 . . . . . . g.67057
CAG | ATCAGGGTCCAGGTGATCGAGGGGCGCCAGCTGCCGGGGGTGAACATCAAGCCTGTG c.720
Q | I R V Q V I E G R Q L P G V N I K P V p.240
. . . . . . g.67117
GTCAAGGTTACCGCTGCAGGGCAGACCAAGCGGACGCGGATCCACAAGGGAAACAGCCCA c.780
V K V T A A G Q T K R T R I H K G N S P p.260
. | 08 . . . . . g.67605
CTCTTCAATGAG | ACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAG c.840
L F N E | T L F F N L F D S P G E L F D E p.280
. | 09 . . . . . g.68411
CCCATCTTTATCACG | GTGGTAGACTCTCGTTCTCTCAGGACAGATGCTCTCCTCGGGGAG c.900
P I F I T | V V D S R S L R T D A L L G E p.300
| 10 . . . | 11. . . g.72189
TTCCGG | ATGGACGTGGGCACCATTTACAGAGAGCCCC | GGCACGCCTATCTCAGGAAGTGG c.960
F R | M D V G T I Y R E P R | H A Y L R K W p.320
. . . . . . g.72249
CTGCTGCTCTCAGACCCTGATGACTTCTCTGCTGGGGCCAGAGGCTACCTGAAAACAAGC c.1020
L L L S D P D D F S A G A R G Y L K T S p.340
. . . | 12 . . . g.77624
CTTTGTGTGCTGGGGCCTGGGGACGAAGCGCCT | CTGGAGAGAAAAGACCCCTCTGAAGAC c.1080
L C V L G P G D E A P | L E R K D P S E D p.360
. . . . . . g.77684
AAGGAGGACATTGAAAGCAACCTGCTCCGGCCCACAGGCGTAGCCCTGCGAGGAGCCCAC c.1140
K E D I E S N L L R P T G V A L R G A H p.380
. . . . | 13 . . g.79695
TTCTGCCTGAAGGTCTTCCGGGCCGAGGACTTGCCGCAGA | TGGACGATGCCGTGATGGAC c.1200
F C L K V F R A E D L P Q M | D D A V M D p.400
. . . . . . g.79755
AACGTGAAACAGATCTTTGGCTTCGAGAGTAACAAGAAGAACTTGGTGGACCCCTTTGTG c.1260
N V K Q I F G F E S N K K N L V D P F V p.420
. . | 14 . . . . g.86434
GAGGTCAGCTTTGCGGGGAAAATG | CTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCT c.1320
E V S F A G K M | L C S K I L E K T A N P p.440
. . . | 15 . . . g.86672
CAGTGGAACCAGAACATCACACTGCCTGCCATG | TTTCCCTCCATGTGCGAAAAAATGAGG c.1380
Q W N Q N I T L P A M | F P S M C E K M R p.460
. | 16. . . . . g.90577
ATTCGTATCATAGACTG | GGACCGCCTGACTCACAATGACATCGTGGCTACCACCTACCTG c.1440
I R I I D W | D R L T H N D I V A T T Y L p.480
. . . . | 17 . . g.100747
AGTATGTCGAAAATCTCTGCCCCTGGAGGAGAAATAGAAG | AGGAGCCTGCAGGTGCTGTC c.1500
S M S K I S A P G G E I E E | E P A G A V p.500
. . | 18 . . . . g.102456
AAGCCTTCGAAAGCCTCAGACT | TGGATGACTACCTGGGCTTCCTCCCCACTTTTGGGCCC c.1560
K P S K A S D L | D D Y L G F L P T F G P p.520
. . . . . . g.102516
TGCTACATCAACCTCTATGGCAGTCCCAGAGAGTTCACAGGCTTCCCAGACCCCTACACA c.1620
C Y I N L Y G S P R E F T G F P D P Y T p.540
. | 19 . . . . g.103026
GAGCTCAACACAGGCAAG | GGGGAAGGTGTGGCTTATCGTGGCCGGCTTCTGCTCTCCCTG c.1680
E L N T G K | G E G V A Y R G R L L L S L p.560
. . . . . . g.103086
GAGACCAAGCTGGTGGAGCACAGTGAACAGAAGGTGGAGGACCTTCCTGCGGATGACATC c.1740
E T K L V E H S E Q K V E D L P A D D I p.580
. | 20 . . . . . g.104436
CTCCGGGTGGAG | AAGTACCTTAGGAGGCGCAAGTACTCCCTGTTTGCGGCCTTCTACTCA c.1800
L R V E | K Y L R R R K Y S L F A A F Y S p.600
. . . . . . g.104496
GCCACCATGCTGCAGGATGTGGATGATGCCATCCAGTTTGAGGTCAGCATCGGGAACTAC c.1860
A T M L Q D V D D A I Q F E V S I G N Y p.620
. . . . . . g.104556
GGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCACCACTCAGTACAGCCGTGCA c.1920
G N K F D M T C L P L A S T T Q Y S R A p.640
. | 21 . . . . . g.105234
GTCTTTGACG | GGTGCCACTACTACTACCTACCCTGGGGTAACGTGAAACCTGTGGTGGTG c.1980
V F D G | C H Y Y Y L P W G N V K P V V V p.660
. . . . . . g.105294
CTGTCATCCTACTGGGAGGACATCAGCCATAGAATCGAGACTCAGAACCAGCTGCTTGGG c.2040
L S S Y W E D I S H R I E T Q N Q L L G p.680
. | 22 . . . . . g.107387
ATTGCTGACCGGCTG | GAAGCTGGCCTGGAGCAGGTCCACCTGGCCCTGAAGGCGCAGTGC c.2100
I A D R L | E A G L E Q V H L A L K A Q C p.700
. . . . . . g.107447
TCCACGGAGGACGTGGACTCGCTGGTGGCTCAGCTGACGGATGAGCTCATCGCAGGCTGC c.2160
S T E D V D S L V A Q L T D E L I A G C p.720
| 23 . . . . . . g.113187
AG | CCAGCCTCTGGGTGACATCCATGAGACACCCTCTGCCACCCACCTGGACCAGTACCTG c.2220
S | Q P L G D I H E T P S A T H L D Q Y L p.740
. . . . . . g.113247
TACCAGCTGCGCACCCATCACCTGAGCCAAATCACTGAGGCTGCCCTGGCCCTGAAGCTC c.2280
Y Q L R T H H L S Q I T E A A L A L K L p.760
. . . . . . g.113307
GGCCACAGTGAGCTCCCTGCAGCTCTGGAGCAGGCGGAGGACTGGCTCCTGCGTCTGCGT c.2340
G H S E L P A A L E Q A E D W L L R L R p.780
. | 24 . . . . . g.115480
GCCCTGGCAGAGGAG | CCCCAGAACAGCCTGCCGGACATCGTCATCTGGATGCTGCAGGGA c.2400
A L A E E | P Q N S L P D I V I W M L Q G p.800
. . . . . . g.115540
GACAAGCGTGTGGCATACCAGCGGGTGCCCGCCCACCAAGTCCTCTTCTCCCGGCGGGGT c.2460
D K R V A Y Q R V P A H Q V L F S R R G p.820
. . . . . | 25 . g.119337
GCCAACTACTGTGGCAAGAATTGTGGGAAGCTACAGACAATCTTTCTGAAA | TATCCGATG c.2520
A N Y C G K N C G K L Q T I F L K | Y P M p.840
. . . . . . g.119397
GAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTC c.2580
E K V P G A R M P V Q I R V K L W F G L p.860
. . . . . . g.119457
TCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAA c.2640
S V D E K E F N Q F A E G K L S V F A E p.880
| 26 . . . . . . g.119606
ACC | TATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACC c.2700
T | Y E N E T K L A L V G N W G T T G L T p.900
. . . . . . g.119666
TACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCC c.2760
Y P K F S D V T G K I K L P K D S F R P p.920
. . . . . | 27 . g.121207
TCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGAC | TCTGCTCCAT c.2820
S A G W T W A G D W F V C P E K T | L L H p.940
. . . . . . g.121267
GACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTT c.2880
D M D A G H L S F V E E V F E N Q T R L p.960
. . . . | 28 . . g.121621
CCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTG | AACGGGGAGAAGGTG c.2940
P G G Q W I Y M S D N Y T D V | N G E K V p.980
. . . . . . g.121681
CTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCC c.3000
L P K D D I E C P L G W K W E D E E W S p.1000
. . . | 29 . . . g.122005
ACAGACCTCAACCGGGCTGTCGATGAGCAAG | GCTGGGAGTATAGCATCACCATCCCCCCG c.3060
T D L N R A V D E Q G | W E Y S I T I P P p.1020
. . . . . . g.122065
GAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGG c.3120
E R K P K H W V P A E K M Y Y T H R R R p.1040
. . . . . | 30 . g.125581
CGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGG | CACAGG c.3180
R W V R L R R R D L S Q M E A L K R | H R p.1060
. . . . . . g.125641
CAGGCGGAGGCGGAGGGCGAGGGCTGGGAGTACGCCTCTCTTTTTGGCTGGAAGTTCCAC c.3240
Q A E A E G E G W E Y A S L F G W K F H p.1080
. . . . . . g.125701
CTCGAGTACCGCAAGACAGATGCCTTCCGCCGCCGCCGCTGGCGCCGTCGCATGGAGCCA c.3300
L E Y R K T D A F R R R R W R R R M E P p.1100
. . . . | 31 . g.140982
CTGGAGAAGACGGGGCCTGCAGCTGTGTTTGCCCTTGAGGGGGCCCTG | GGCGGCGTGATG c.3360
L E K T G P A A V F A L E G A L | G G V M p.1120
. . . . . . g.141042
GATGACAAGAGTGAAGATTCCATGTCCGTCTCCACCTTGAGCTTCGGTGTGAACAGACCC c.3420
D D K S E D S M S V S T L S F G V N R P p.1140
. . | 32 . . . . g.141626
ACGATTTCCTGCATATTCGACT | ATGGGAACCGCTACCATCTACGCTGCTACATGTACCAG c.3480
T I S C I F D Y | G N R Y H L R C Y M Y Q p.1160
. . . . | 33 . . g.149961
GCCCGGGACCTGGCTGCGATGGACAAGGACTCTTTTTCTG | ATCCCTATGCCATCGTCTCC c.3540
A R D L A A M D K D S F S D | P Y A I V S p.1180
. . . . . . g.150021
TTCCTGCACCAGAGCCAGAAGACGGTGGTGGTGAAGAACACCCTTAACCCCACCTGGGAC c.3600
F L H Q S Q K T V V V K N T L N P T W D p.1200
. . . . . . g.150081
CAGACGCTCATCTTCTACGAGATCGAGATCTTTGGCGAGCCGGCCACAGTTGCTGAGCAA c.3660
Q T L I F Y E I E I F G E P A T V A E Q p.1220
. . . . | 34 . . g.152097
CCGCCCAGCATTGTGGTGGAGCTGTACGACCATGACACTTAT | GGTGCAGACGAGTTTATG c.3720
P P S I V V E L Y D H D T Y | G A D E F M p.1240
. . . . . . g.152157
GGTCGCTGCATCTGTCAACCGAGTCTGGAACGGATGCCACGGCTGGCCTGGTTCCCACTG c.3780
G R C I C Q P S L E R M P R L A W F P L p.1260
. . . . . . g.152217
ACGAGGGGCAGCCAGCCGTCGGGGGAGCTGCTGGCCTCTTTTGAGCTCATCCAGAGAGAG c.3840
T R G S Q P S G E L L A S F E L I Q R E p.1280
| 35 . . . | 36 . . . g.154180
AAG | CCGGCCATCCACCATATTCCTGGTTTTGAG | GTGCAGGAGACATCAAGGATCCTGGAT c.3900
K | P A I H H I P G F E | V Q E T S R I L D p.1300
| 37 . . . . . . g.162679
GAG | TCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATG c.3960
E | S E D T D L P Y P P P Q R E A N I Y M p.1320
. . . . | 38 . . g.162857
GTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAG | ATCCTGGCATGGGGC c.4020
V P Q N I K P A L Q R T A I E | I L A W G p.1340
. . . . . . g.162917
CTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAG c.4080
L R N M K S Y Q L A N I S S P S L V V E p.1360
. . . . . . g.162977
TGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTT c.4140
C G G Q T V Q S C V I R N L R K N P N F p.1380
. . | 39. . . . g.164051
GACATCTGCACCCTCTTCATGGAAGTG | ATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCC c.4200
D I C T L F M E V | M L P R E E L Y C P P p.1400
. . . . . . g.164111
ATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGT c.4260
I T V K V I D N R Q F G R R P V V G Q C p.1420
. . . . . . g.164171
ACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCA c.4320
T I R S L E S F L C D P Y S A E S P S P p.1440
. | 40 . . . . . g.164758
CAGGGTGGCCCAG | ACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATT c.4380
Q G G P D | D V S L L S P G E D V L I D I p.1460
. . . | 41 . . . g.195372
GATGACAAGGAGCCCCTCATCCCCATCCAG | GAGGAAGAGTTCATCGATTGGTGGAGCAAA c.4440
D D K E P L I P I Q | E E E F I D W W S K p.1480
^ alternatively spliced exon 40b
. . . . . . g.195432
TTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGAC c.4500
F F A S I G E R E K C G S Y L E K D F D p.1500
| 42 . . . . . g.207590
ACCCTGAAG | GTCTATGACACACAGCTGGAGAATGTGGAGGCCTTTGAGGGCCTGTCTGAC c.4560
T L K | V Y D T Q L E N V E A F E G L S D p.1520
. . . . . . g.207650
TTTTGTAACACCTTCAAGCTGTACCGGGGCAAGACGCAGGAGGAGACAGAAGATCCATCT c.4620
F C N T F K L Y R G K T Q E E T E D P S p.1540
. | 43 . . . . g.210297
GTGATTGGTGAATTTAAG | GGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATC c.4680
V I G E F K | G L F K I Y P L P E D P A I p.1560
. . . . . . g.210357
CCCATGCCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTC c.4740
P M P P R Q F H Q L A A Q G P Q E C L V p.1580
. . . . . | 44 . g.211943
CGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAG | TGTGAT c.4800
R I Y I V R A F G L Q P K D P N G K | C D p.1600
. . . . . . g.212003
CCTTACATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCC c.4860
P Y I K I S I G K K S V S D Q D N Y I P p.1620
. . | 45 . . . . g.215679
TGCACGCTGGAGCCCGTATTTGGAAA | GATGTTCGAGCTGACCTGCACTCTGCCTCTGGAG c.4920
C T L E P V F G K | M F E L T C T L P L E p.1640
. . . . . . g.215739
AAGGACCTAAAGATCACTCTCTATGACTATGACCTCCTCTCCAAGGACGAAAAGATCGGT c.4980
K D L K I T L Y D Y D L L S K D E K I G p.1660
. . . . . . g.215799
GAGACGGTCGTCGACCTGGAGAACAGGCTGCTGTCCAAGTTTGGGGCTCGCTGTGGACTC c.5040
E T V V D L E N R L L S K F G A R C G L p.1680
. | 46. . . . . g.216582
CCACAGACCTACTGTGT | CTCTGGACCGAACCAGTGGCGGGACCAGCTCCGCCCCTCCCAG c.5100
P Q T Y C V | S G P N Q W R D Q L R P S Q p.1700
. . . . . . g.216642
CTCCTCCACCTCTTCTGCCAGCAGCATAGAGTCAAGGCACCTGTGTACCGGACAGACCGT c.5160
L L H L F C Q Q H R V K A P V Y R T D R p.1720
. . . . | 47 . . g.218773
GTAATGTTTCAGGATAAAGAATATTCCATTGAAGAGATAG | AGGCTGGCAGGATCCCAAAC c.5220
V M F Q D K E Y S I E E I E | A G R I P N p.1740
. . . . . . g.218833
CCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTG c.5280
P H L G P V E E R L A L H V L Q Q Q G L p.1760
. . . . . . g.218893
GTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAG c.5340
V P E H V E S R P L Y S P L Q P D I E Q p.1780
| 48 . . . . . . g.220191
| GGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCC c.5400
| G K L Q M W V D L F P K A L G R P G P P p.1800
. . | 49 . . . g.220520
TTCAACATCACCCCACGGAGAGCCAGAAG | GTTTTTCCTGCGTTGTATTATCTGGAATACC c.5460
F N I T P R R A R R | F F L R C I I W N T p.1820
. . . . . . g.220580
AGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTG c.5520
R D V I L D D L S L T G E K M S D I Y V p.1840
| 50 . . . . . . g.221037
AAAGG | TTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCC c.5580
K G | W M I G F E E H K Q K T D V H Y R S p.1860
. . . . . . g.221097
CTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCT c.5640
L G G E G N F N W R F I F P F D Y L P A p.1880
. . | 51. . . . g.225607
GAGCAAGTCTGTACCATTGCCAAGAAG | GATGCCTTCTGGAGGCTGGACAAGACTGAGAGC c.5700
E Q V C T I A K K | D A F W R L D K T E S p.1900
. . . . . . g.225667
AAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGAT c.5760
K I P A R V V F Q I W D N D K F S F D D p.1920
| 52. . . . . . g.230487
TTTCTGG | GCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAG c.5820
F L G | S L Q L D L N R M P K P A K T A K p.1940
. . . . . . g.230547
AAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTT c.5880
K C S L D Q L D D A F H P E W F V S L F p.1960
. . . . . . g.230607
GAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATA c.5940
E Q K T V K G W W P C V A E E G E K K I p.1980
| 53 . . . . . . g.232432
CTGGCG | GGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGG c.6000
L A | G K L E M T L E I V A E S E H E E R p.2000
. . . . . | 54 . g.233911
CCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAG | GCGC c.6060
P A G Q G R D E P N M N P K L E D P R | R p.2020
. . . . . . g.233971
CCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGG c.6120
P D T S F L W F T S P Y K T M K F I L W p.2040
. . . . . . g.234031
CGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTG c.6180
R R F R W A I I L F I I L F I L L L F L p.2060
. . | 55 . . . . g.237867
GCCATCTTCATCTACGCCTTCCCG | AACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGC c.6240
A I F I Y A F P | N Y A A M K L V K P F S p.2080
g.237870
TGA c.6243
X p.2080
. . . . . . g.237930
ggactctcctgccctgtagaaggggccgtggggtcccctccagcatgggactggcctgcc c.*60
. . . . . . g.237990
tcctccgcccagctcggcgagctcctccagacctcctaggcctgattgtcctgccagggt c.*120
. . . . . . g.238050
gggcagacagacagatggaccggcccacactcccagagttgctaacatggagctctgaga c.*180
. . . . . . g.238110
tcaccccacttccatcatttccttctcccccaacccaacgcttttttggatcagctcaga c.*240
. . . g.238141
catatttcagtataaaacagttggaaccaca c.*271
(downstream sequence)
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