(used for variant description)
(last modified November 11, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_018027.3 in the FRMD4A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering FRMD4A transcript NM_018027.3.
(upstream sequence)
. . . . . g.5052
gcagtgcaattccatgttcctcttaagtatgttagccctaccgggagctgag c.-301
. . . . . . g.5112
ctggccagtctacttggagaggaaaagtagatctggggaaggtggaagggtcagttccta c.-241
. . . . . . g.5172
agtgacttcctcctcggggatggtaagggcatttgctgatctccagtgactgcctggtgc c.-181
. . . . . . g.5232
ctcatggtcagactcggctgtctcactcccagatatctgattttgcaaaaagggacacac c.-121
. . . . | 02 . g.5705
ctatctgcagcaaagaagacactgaccagattgcgagcg | gtgcttttggatgctctgtag c.-61
. . . . . . g.5765
ccacccggggcccaggaggactgactcggcagcaggattcgtgcatgggaatcggagacc c.-1
. . . . | 03 . . g.476969
ATGGCAGTGCAGCTGGTGCCCGACTCAGCTCTCGGCCTGCTGATG | ATGACGGAGGGCCGC c.60
M A V Q L V P D S A L G L L M | M T E G R p.20
. . . . . | 04 . g.524967
CGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAG | CCCAAGCTG c.120
R C Q V H L L D D R K L E L L V Q | P K L p.40
. . . . . . g.525027
TTGGCCAAGGAGCTTCTTGACCTTGTGGCTTCTCACTTCAATCTGAAGGAAAAGGAGTAC c.180
L A K E L L D L V A S H F N L K E K E Y p.60
. . | 05 . . . . g.539312
TTTGGAATAGCATTCACAGATGAAAC | GGGACACTTAAACTGGCTTCAGCTAGATCGAAGA c.240
F G I A F T D E T | G H L N W L Q L D R R p.80
. . . . . | 06 g.552861
GTATTGGAACATGACTTCCCTAAAAAGTCAGGACCCGTGGTTTTATACTTTTGTGTCAG | G c.300
V L E H D F P K K S G P V V L Y F C V R | p.100
. . . . . . g.552921
TTCTATATAGAAAGCATTTCATACCTGAAGGATAATGCTACCATTGAGCTTTTCTTTCTG c.360
F Y I E S I S Y L K D N A T I E L F F L p.120
. . | 07 . . . . g.573222
AACGCGAAGTCCTGCATCTACAAG | GAGCTTATTGACGTTGACAGCGAAGTGGTGTTTGAA c.420
N A K S C I Y K | E L I D V D S E V V F E p.140
. . | 08 . . | 09 . . g.588063
TTAGCTTCCTATATTTTACAG | GAGGCAAAGGGAGATTTTTCTAG | CAATGAAGTTGTGAGG c.480
L A S Y I L Q | E A K G D F S S | N E V V R p.160
. . . . . . g.588123
AGTGACTTGAAGAAGCTGCCAGCCCTTCCCACCCAAGCCCTGAAGGAGCACCCTTCCCTG c.540
S D L K K L P A L P T Q A L K E H P S L p.180
| 10 . . . . . g.595341
GCCTACTG | TGAAGACAGAGTCATTGAGCACTACAAGAAACTGAACGGTCAGACAAGAGGT c.600
A Y C | E D R V I E H Y K K L N G Q T R G p.200
. | 11 . . . . . g.595661
CAAGCAATCGTAAA | CTACATGAGCATCGTGGAGTCTCTCCCAACCTACGGGGTTCACTAT c.660
Q A I V N | Y M S I V E S L P T Y G V H Y p.220
. | 12 . . . . . g.597984
TATGCAGTGAAG | GACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATC c.720
Y A V K | D K Q G I P W W L G L S Y K G I p.240
. . . | 13 . . g.628774
TTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAG | ATATTCCAATGGAGACAGTTG c.780
F Q Y D Y H D K V K P R K | I F Q W R Q L p.260
. . . . . | 14 . g.634392
GAAAACCTGTACTTCAGAGAAAAGAAGTTTTCCGTGGAAGTTCATGACCCACGCAG | GGCT c.840
E N L Y F R E K K F S V E V H D P R R | A p.280
. . . . . . g.634452
TCAGTGACAAGGAGGACGTTTGGGCACAGCGGCATTGCAGTGCACACGTGGTATGCATGT c.900
S V T R R T F G H S G I A V H T W Y A C p.300
. . . . . . g.634512
CCGGCATTGATCAAGTCCATCTGGGCTATGGCCATAAGCCAACACCAGTTCTATCTGGAC c.960
P A L I K S I W A M A I S Q H Q F Y L D p.320
. | 15 . . . . . g.641872
AGAAAGCAGAGTAAG | TCCAAAATCCATGCAGCACGCAGCCTGAGTGAGATCGCCATCGAC c.1020
R K Q S K | S K I H A A R S L S E I A I D p.340
. . . . . . g.641932
CTGACCGAGACGGGGACGCTGAAGACCTCGAAGCTGGCCAACATGGGTAGCAAGGGGAAG c.1080
L T E T G T L K T S K L A N M G S K G K p.360
. . . | 16. . . g.660845
ATCATCAGCGGCAGCAGCGGCAGCCTGCTGTCTTCAG | GTTCTCAGGAATCAGATAGCTCG c.1140
I I S G S S G S L L S S G | S Q E S D S S p.380
. . . . . . g.660905
CAGTCGGCCAAGAAGGACATGCTGGCTGCCTTGAAGTCCAGGCAGGAAGCTCTGGAGGAA c.1200
Q S A K K D M L A A L K S R Q E A L E E p.400
. . . . . | 17 . g.665347
ACCCTGCGTCAGAGGCTGGAGGAACTGAAGAAGCTGTGTCTCCGAGAAGCT | GAGCTCACG c.1260
T L R Q R L E E L K K L C L R E A | E L T p.420
. . . . . . g.665407
GGCAAGCTGCCAGTAGAATATCCCCTGGATCCAGGGGAGGAACCACCCATTGTTCGGAGA c.1320
G K L P V E Y P L D P G E E P P I V R R p.440
. . . . . | 18 . g.669547
AGAATAGGAACAGCCTTCAAACTGGATGAACAGAAAATCCTGCCCAAAGGAGAG | GAAGCT c.1380
R I G T A F K L D E Q K I L P K G E | E A p.460
. . . . . . g.669607
GAGCTGGAACGCCTGGAACGAGAGTTTGCCATTCAGTCCCAGATTACGGAGGCCGCCCGC c.1440
E L E R L E R E F A I Q S Q I T E A A R p.480
. . . . . . g.669667
CGCCTAGCCAGTGACCCCAACGTCAGCAAAAAACTGAAGAAACAAAGGAAAACCTCGTAT c.1500
R L A S D P N V S K K L K K Q R K T S Y p.500
. . . . . . g.669727
CTGAATGCACTGAAGAAACTGCAGGAGATTGAAAATGCAATCAATGAGAACCGCATCAAG c.1560
L N A L K K L Q E I E N A I N E N R I K p.520
. . . . | 19 . . g.672374
TCTGGGAAGAAACCCACCCAGAGGGCTTCGCTGATCATAGACG | ATGGAAACATTGCCAGT c.1620
S G K K P T Q R A S L I I D D | G N I A S p.540
. . . . | 20 . . g.675333
GAAGACAGCTCCCTCTCAGATGCCCTTGTTCTTGAGGATG | AAGACTCTCAGGTTACCAGC c.1680
E D S S L S D A L V L E D E | D S Q V T S p.560
. . . . . . g.675393
ACAATATCCCCCCTACATTCTCCTCACAAGGGACTCCCTCCTCGGCCACCGTCGCACAAC c.1740
T I S P L H S P H K G L P P R P P S H N p.580
. . . . . . g.675453
AGGCCTCCTCCTCCCCAGTCCCTGGAGGGACTCCGACAGATGCACTATCACCGCAACGAC c.1800
R P P P P Q S L E G L R Q M H Y H R N D p.600
. . . . . . g.675513
TATGACAAGTCACCCATCAAGCCCAAAATGTGGAGTGAGTCCTCTTTAGATGAACCCTAT c.1860
Y D K S P I K P K M W S E S S L D E P Y p.620
. . . | 21 . . g.676398
GAGAAGGTCAAGAAGCGCTCCTCTCACAGCCATTCCAG | CAGCCACAAGCGCTTCCCCAGC c.1920
E K V K K R S S H S H S S | S H K R F P S p.640
. . . . . . g.676458
ACAGGAAGCTGTGCGGAAGCCGGCGGAGGAAGCAACTCCTTGCAGAACAGCCCCATCCGC c.1980
T G S C A E A G G G S N S L Q N S P I R p.660
. . . . . . g.676518
GGCCTCCCGCACTGGAACTCCCAGTCCAGCATGCCGTCCACGCCAGACCTGCGGGTCCGG c.2040
G L P H W N S Q S S M P S T P D L R V R p.680
. . | 22 . . . . g.678378
AGTCCCCACTACGTCCATTCCACGAG | GTCGGTGGACATCAGCCCCACCCGACTGCACAGC c.2100
S P H Y V H S T R | S V D I S P T R L H S p.700
. . . . . . g.678438
CTCGCACTGCACTTTAGGCACCGGAGCTCCAGCCTGGAGTCCCAGGGCAAGCTCCTGGGC c.2160
L A L H F R H R S S S L E S Q G K L L G p.720
. . . . . . g.678498
TCGGAAAACGACACCGGGAGCCCCGACTTCTACACCCCGCGGACTCGTAGCAGCAACGGC c.2220
S E N D T G S P D F Y T P R T R S S N G p.740
. . . . . . g.678558
TCAGACCCCATGGACGACTGCTCGTCGTGCACCAGCCACTCGAGCTCGGAGCACTACTAC c.2280
S D P M D D C S S C T S H S S S E H Y Y p.760
. . . . . . g.678618
CCGGCGCAGATGAACGCCAACTACTCCACGCTGGCCGAGGACTCGCCGTCCAAGGCGCGC c.2340
P A Q M N A N Y S T L A E D S P S K A R p.780
. . . . . . g.678678
CAGAGGCAGAGGCAGCGGCAGCGGGCGGCGGGCGCACTGGGCTCAGCCAGCTCGGGCAGC c.2400
Q R Q R Q R Q R A A G A L G S A S S G S p.800
. . . . . . g.678738
ATGCCCAACCTGGCGGCGCGCGGGGGTGCGGGGGGCGCGGGGGGCGCGGGGGGCGGTGTG c.2460
M P N L A A R G G A G G A G G A G G G V p.820
. . . . . . g.678798
TACCTGCACAGCCAGAGCCAGCCCAGCTCGCAGTACCGCATCAAGGAGTACCCGCTGTAC c.2520
Y L H S Q S Q P S S Q Y R I K E Y P L Y p.840
. . . . . . g.678858
ATCGAGGGCGGCGCCACGCCCGTGGTGGTGCGCAGCCTGGAGAGCGACCAGGAGGGCCAC c.2580
I E G G A T P V V V R S L E S D Q E G H p.860
. . . . . . g.678918
TACAGCGTCAAGGCTCAGTTCAAGACGTCCAACTCCTACACGGCGGGCGGCCTGTTCAAG c.2640
Y S V K A Q F K T S N S Y T A G G L F K p.880
. . . . . . g.678978
GAGAGCTGGCGCGGCGGCGGCGGCGACGAGGGCGACACGGGCCGCCTGACGCCGTCGCGA c.2700
E S W R G G G G D E G D T G R L T P S R p.900
. . . . . . g.679038
TCGCAGATCCTGCGGACTCCGTCGCTGGGCCGCGAGGGCGCCCACGACAAGGGCGCGGGC c.2760
S Q I L R T P S L G R E G A H D K G A G p.920
. . . . . . g.679098
CGTGCCGCCGTCTCAGACGAGCTGCGCCAGTGGTACCAGCGTTCCACCGCCTCGCACAAG c.2820
R A A V S D E L R Q W Y Q R S T A S H K p.940
. . . . . . g.679158
GAGCACAGCCGCCTGTCGCACACCAGCTCCACCTCCTCGGACAGCGGCTCGCAGTACAGC c.2880
E H S R L S H T S S T S S D S G S Q Y S p.960
. . . . . . g.679218
ACCTCCTCCCAGAGCACCTTCGTGGCGCACAGCAGGGTCACCAGGATGCCCCAGATGTGC c.2940
T S S Q S T F V A H S R V T R M P Q M C p.980
. | 23 . . . . . g.681401
AAGGCCACGTCAG | CTGCCTTACCTCAAAGCCAGAGAAGCTCGACACCGTCAAGTGAAATT c.3000
K A T S A | A L P Q S Q R S S T P S S E I p.1000
. . . . . | 24 . g.683902
GGAGCCACCCCCCCAAGCAGCCCCCACCACATCCTAACCTGGCAGACTGG | AGAAGCAACA c.3060
G A T P P S S P H H I L T W Q T G | E A T p.1020
. . . . . . g.683962
GAAAACTCACCCATTCTGGATGGGTCTGAGTCTCCACCTCACCAAAGTACTGATGAATAG c.3120
E N S P I L D G S E S P P H Q S T D E X p.1039
| 25 . . . . . . g.688889
ag | gagctacaatgatagctgtttcctggattcctccctctatccagaactagctgatgtc c.*60
. . . . . . g.688949
cagtggtacgggcaggaaaaagccaagcccgggaccctcgtgtgagccagcccggcctaa c.*120
. . . . . . g.689009
tctgaccgcctcaacgccattctgagatcacctcactgcctctcatttgccttacccaga c.*180
. . . . . . g.689069
cgcaccgtcaccctgcaccagctttggccctcagcactttttttctcctgtctccgcatt c.*240
. . . . . . g.689129
ccctcccccttgaaaacctgactgaggagacattctggaaggttccggtcccactgtgtg c.*300
. . . . . . g.689189
tcccctggcgctcttgcccatagagagccagacaccaatcctcaatggcaccttggtggc c.*360
. . . . . . g.689249
ttccctctgccatgacagcccctaggccaggaaccatcaggggggccagccggcatccaa c.*420
. . . . . . g.689309
ttcctgcggataagtagcgttgggagagaacgggaaaggggacttgagttacagggtgac c.*480
. . . . . . g.689369
ccagaaagacgattcagctgtgtccagcctgccacccatacgtaggccaaccaagcactt c.*540
. . . . . . g.689429
catgaagaggaggcctcgtggcatattcagtttacacctgaaatattccttgatgggaca c.*600
. . . . . . g.689489
gcttgtggggatggctatgggggaaggggaggttgagaaaggaagttctcgacaccagaa c.*660
. . . . . . g.689549
atgcatcggaggaccacaatcagttctatgctgccaaagattaaaaataaataaaaacat c.*720
. . . . . . g.689609
aaaaaattaagaggggccaagaggaagacattctttctgcaaggaaatttcttttaaatt c.*780
. . . . . . g.689669
ctgaactgctactacacacaagtgaaagtcaaccctatgtaaactggtgtcctctctcta c.*840
. . . . . . g.689729
gccctctcccttactggcccacttctctctccgtagagagcctgaaaaactgccccaatg c.*900
. . . . . . g.689789
ccacggtaaaggcgaggaagtcttggctggcgttgctgactcacagtcgccatccatctg c.*960
. . . . . . g.689849
gacacaaagagagacctgtgggagtcgtagagggtactgttagccccggtccatgcaggg c.*1020
. . . . . . g.689909
ggttcagccgagcccaagactcaaagctgctttcctttcaggatttgtagtaacgtaagg c.*1080
. . . . . . g.689969
tgataatggccaaaagtggttctctctcattaaaccaaccagtaaaagcgtatcctattt c.*1140
. . . . . . g.690029
ttttgcacaaggtgtttcattttcgtttttatgggaaaccaagggaaaagcacattgcga c.*1200
. . . . . . g.690089
tccattcagtgtttaactgtcgtggctcattttctgttcgttagcacttgtgtgacaaaa c.*1260
. . . . . . g.690149
gagctcagatccgacttctcctatgtgtcacttattccaagaacccaactatgcccttag c.*1320
. . . . . . g.690209
gtagaaagatttgactcgtgtgtctactagccaacaggcagagcagggttgaaaaaaata c.*1380
. . . . . . g.690269
tcagctcccaaagggcccatgtgtctacatcatcagttactgtcatgcaccacatttgtg c.*1440
. . . . . . g.690329
tgcagataccaaaagaggaggaaagaagaaaaaaattaatgtgtgggagctgcacgttta c.*1500
. . . . . . g.690389
catgttttgagctatgcttcaaacacaactggaaagccatcaatcttcaaaggcctcaaa c.*1560
. . . . . . g.690449
aatacttttatagtaacaagtgcacgactttagttgggttattcaagatggcacaaaaag c.*1620
. . . . . . g.690509
gtttccgcagaggtggtatgctgtgcttttggcgcaagtggtggggggatggggtggggg c.*1680
. . . . . . g.690569
tggaatttttttctcactctaatgacttcctattggaaaggcattgacagccagggacag c.*1740
. . . . . . g.690629
gagccagggtgggggtagttttgtgggaaagcagaactgaagttagcttaagcataaaaa c.*1800
. . . . . . g.690689
caaagaaaaatcttcgcttttcatgtatgtggaatccaagaataaccataggctctacca c.*1860
. . . . . . g.690749
gaccagaagggtaaggatggacactaaaatgaaacaaataccaaggtattccttctgctg c.*1920
. . . . . . g.690809
cagcctggagaccaccgagagtcgagctggggcacacacacacctggccgggacccggca c.*1980
. . . . . . g.690869
gggacaaggcgggccgtggcctcctccaccaagtctctctagacaattcagggcctgctt c.*2040
. . . . . . g.690929
tccccagctccatgcatggctggactggtgattccagggtgcagaagggattcatattcc c.*2100
. . . . . . g.690989
cagaacgctttaagtgtacacctgcaggataaagagataccggttacattattaaatgat c.*2160
. . . . . . g.691049
tctagggattcactgggggatatttttgttgcttttactttcatggttagagctacaaag c.*2220
. . . . . . g.691109
aacagtgattttttttttttctcccttccccattcagaaacattatacattgggccattt c.*2280
. . . . . . g.691169
ttctttctcccaaagaagattcatggatagtcagactgaactgtgtgcaacaggaaaagt c.*2340
. . . . . . g.691229
caaaagggaaaaggtagctgatgaggttacatggttacatgttctacatcatgcatagta c.*2400
. . . . . . g.691289
gcttgaaatctagtctggagaaaactggatcaagattctagcccactggagttgcaagga c.*2460
. . . . . . g.691349
atgagaggcaaaaattctaaagatttgggttatattttcaacttgggggacagagagaaa c.*2520
. . . . . . g.691409
tggagagcaggaattacagttccaacaaacatcatgatagtctggtagtcaagacagaga c.*2580
. . . . . . g.691469
ttaagtaaaacaggttttactgtttagctgagttcagttaatacaaaatgtacataaaac c.*2640
. . . . . . g.691529
gttagtcctttgagactgacatgattaatgatcagtgtggtgggaaatgatgtagttatt c.*2700
. . . . . . g.691589
gtacacaagcacttgcaaactctttatccctatttctttaaaacaaaataaggtgaaata c.*2760
. . . . . . g.691649
cgaagtccttggtctgatataaagcccctattggattcttcggatgcgtaaaagaaattg c.*2820
. . . . . . g.691709
cctgtttcagccagaagactggtgaaaacacatacatcagactatgttgtgagccaggtt c.*2880
. . . . . . g.691769
gattttttattttattatatgcaggtgagtgttgaaactgttaaaattccaatttgtttt c.*2940
. . . . . . g.691829
cattcagtattagtttagttctaaatatagcaaaccccatccaggtgctatcagatgacc c.*3000
. . . . . . g.691889
agttactgcttagttaactaggtgtaaagttttacatatacattaatgtcaatagtttat c.*3060
. . . . . . g.691949
tacaagttgtgtaaaatggactctagtttaataatgggggaaaaaagattaggttgctcc c.*3120
. . . . . . g.692009
tgaaactgactgtagagcatgtaaaatgattttactggattctgttcaactgtaatcaat c.*3180
. . . . . . g.692069
gaaaaagatgtacgttgtagacaaagttgcagaattaaaaaaagaaatctgcttttaatt c.*3240
. . . . . . g.692129
tattctttttgtattaagaatttgtatagtacctttacattttgcaaaacagtgttgtca c.*3300
. . . g.692161
acacttattaaagcattttcaaaatgaaaaga c.*3332
(downstream sequence)
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