(used for variant description)
(last modified February 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001089.2 in the ABCA3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011790.1, covering ABCA3 transcript NM_001089.2.
(upstream sequence)
. . . . . g.5052
gcggccgctgcgtccgccagtagcgggttgcaggcgcaccctcccctccagg c.-661
. . . . . . g.5112
gcggccacgcagctgtcagtgccgccgccactgcgaggctggagcggagcccgggtggcc c.-601
. . . . . . g.5172
gagggaggggaccccgcgagagggccgcgcgccggccgccgccgccccggcgcccaggct c.-541
. | 02 . . . . . g.15950
cg | gtgctggagagtcatgcctgtgagccctgggcacctcctgatgtcctgcgaggtcacg c.-481
. . . . . . g.16010
gtgttcccaaacctcagggttgccctgccccactccagaggctctcaggccccaccccgg c.-421
. . . . . . g.16070
agccctctgtgcggagccgcctcctcctggccagttccccagtagtcctgaagggagacc c.-361
. . . | 03 . . g.17020
tgctgtgtggagcctcttctgggacccag | ccatgagtgtggagctgagcaactgaacctg c.-301
. . . . . . g.17080
aaactcttccactgtgagtcaaggaggcttttccgcacatgaaggacgctgagcgggaag c.-241
. . . . . . g.17140
gactcctctctgcctgcagttgtagcgagtggaccagcaccaggggctctctagactgcc c.-181
. . . . . . g.17200
cctcctccatcgccttccctgcctctccaggacagagcagccacgtctgcacacctcgcc c.-121
. . . . . . g.17260
ctctttacactcagttttcagagcacgtttctcctatttcctgcgggttgcagcgcctac c.-61
. . . . | 04 . . g.19280
ttgaacttactcagaccacctacttctctagcag | cactgggcgtccctttcagcaagacg c.-1
. . . . . | 05 . g.19478
ATGGCTGTGCTCAGGCAGCTGGCGCTCCTCCTCTGGAAGAACTACACCCTGCAG | AAGCGG c.60
M A V L R Q L A L L L W K N Y T L Q | K R p.20
. . . . . . g.19538
AAGGTCCTGGTGACGGTCCTGGAACTCTTCCTGCCATTGCTGTTTTCTGGGATCCTCATC c.120
K V L V T V L E L F L P L L F S G I L I p.40
. . . . . . g.19598
TGGCTCCGCTTGAAGATTCAGTCGGAAAATGTGCCCAACGCCACCATCTACCCGGGCCAG c.180
W L R L K I Q S E N V P N A T I Y P G Q p.60
. . . . . . g.19658
TCCATCCAGGAGCTGCCTCTGTTCTTCACCTTCCCTCCGCCAGGAGACACCTGGGAGCTT c.240
S I Q E L P L F F T F P P P G D T W E L p.80
. . . . . . g.19718
GCCTACATCCCTTCTCACAGTGACGCTGCCAAGACCGTCACTGAGACAGTGCGCAGGGCA c.300
A Y I P S H S D A A K T V T E T V R R A p.100
. | 06 . . . . g.21256
CTTGTGATCAACATGCGAG | TGCGCGGCTTTCCCTCCGAGAAGGACTTTGAGGACTACATT c.360
L V I N M R V | R G F P S E K D F E D Y I p.120
. . . . . . g.21316
AGGTACGACAACTGCTCGTCCAGCGTGCTGGCCGCCGTGGTCTTCGAGCACCCCTTCAAC c.420
R Y D N C S S S V L A A V V F E H P F N p.140
. . | 07. . . . g.22091
CACAGCAAGGAGCCCCTGCCGCTGGCG | GTGAAATATCACCTACGGTTCAGTTACACACGG c.480
H S K E P L P L A | V K Y H L R F S Y T R p.160
. . . . . . g.22151
AGAAATTACATGTGGACCCAAACAGGCTCCTTTTTCCTGAAAGAGACAGAAGGCTGGCAC c.540
R N Y M W T Q T G S F F L K E T E G W H p.180
. . . . . . g.22211
ACTACTTCCCTTTTCCCGCTTTTCCCAAACCCAGGACCAAGGGAACCTACATCCCCTGAT c.600
T T S L F P L F P N P G P R E P T S P D p.200
. | 08 . . . . . g.25953
GGCGGAGAACCTG | GGTACATCCGGGAAGGCTTCCTGGCCGTGCAGCATGCTGTGGACCGG c.660
G G E P G | Y I R E G F L A V Q H A V D R p.220
. . . . . . g.26013
GCCATCATGGAGTACCATGCCGATGCCGCCACACGCCAGCTGTTCCAGAGACTGACGGTG c.720
A I M E Y H A D A A T R Q L F Q R L T V p.240
. . . . . . g.26073
ACCATCAAGAGGTTCCCGTACCCGCCGTTCATCGCAGACCCCTTCCTCGTGGCCATCCAG c.780
T I K R F P Y P P F I A D P F L V A I Q p.260
. . . . . . g.26133
TACCAGCTGCCCCTGCTGCTGCTGCTCAGCTTCACCTACACCGCGCTCACCATTGCCCGT c.840
Y Q L P L L L L L S F T Y T A L T I A R p.280
. . . | 09 . . . g.28009
GCTGTCGTGCAGGAGAAGGAAAGGAGGCTGAAG | GAGTACATGCGCATGATGGGGCTCAGC c.900
A V V Q E K E R R L K | E Y M R M M G L S p.300
. . . . . . g.28069
AGCTGGCTGCACTGGAGTGCCTGGTTCCTCTTGTTCTTCCTCTTCCTCCTCATCGCCGCC c.960
S W L H W S A W F L L F F L F L L I A A p.320
. . . | 10 . . . g.28373
TCCTTCATGACCCTGCTCTTCTGTGTCAAG | GTGAAGCCAAATGTAGCCGTGCTGTCCCGC c.1020
S F M T L L F C V K | V K P N V A V L S R p.340
. . . . . . g.28433
AGCGACCCCTCCCTGGTGCTCGCCTTCCTGCTGTGCTTCGCCATCTCTACCATCTCCTTC c.1080
S D P S L V L A F L L C F A I S T I S F p.360
. . . | 11 . . . g.37152
AGCTTCATGGTCAGCACCTTCTTCAGCAAAG | CCAACATGGCAGCAGCCTTCGGAGGCTTC c.1140
S F M V S T F F S K A | N M A A A F G G F p.380
. . . . . . g.37212
CTCTACTTCTTCACCTACATCCCCTACTTCTTCGTGGCCCCTCGGTACAACTGGATGACT c.1200
L Y F F T Y I P Y F F V A P R Y N W M T p.400
. . . . . . g.37272
CTGAGCCAGAAGCTCTGCTCCTGCCTCCTGTCTAATGTCGCCATGGCAATGGGAGCCCAG c.1260
L S Q K L C S C L L S N V A M A M G A Q p.420
. . | 12 . . . . g.41631
CTCATTGGGAAATTTGAGGCGAAAG | GCATGGGCATCCAGTGGCGAGACCTCCTGAGTCCC c.1320
L I G K F E A K G | M G I Q W R D L L S P p.440
. . . . . . g.41691
GTCAACGTGGACGACGACTTCTGCTTCGGGCAGGTGCTGGGGATGCTGCTGCTGGACTCT c.1380
V N V D D D F C F G Q V L G M L L L D S p.460
. . . . . . g.41751
GTGCTCTATGGCCTGGTGACCTGGTACATGGAGGCCGTCTTCCCAGGGCAGTTCGGCGTG c.1440
V L Y G L V T W Y M E A V F P G Q F G V p.480
. . | 13. . . . g.45631
CCTCAGCCCTGGTACTTCTTCATCATG | CCCTCCTATTGGTGTGGGAAGCCAAGGGCGGTT c.1500
P Q P W Y F F I M | P S Y W C G K P R A V p.500
. . . . . . g.45691
GCAGGGAAGGAGGAAGAAGACAGTGACCCCGAGAAAGCACTCAGAAACGAGTACTTTGAA c.1560
A G K E E E D S D P E K A L R N E Y F E p.520
. . . . . | 14 . g.46223
GCCGAGCCAGAGGACCTGGTGGCGGGGATCAAGATCAAGCACCTGTCCAAG | GTGTTCAGG c.1620
A E P E D L V A G I K I K H L S K | V F R p.540
. . . . . . g.46283
GTGGGAAATAAGGACAGGGCGGCCGTCAGAGACCTGAACCTCAACCTGTACGAGGGACAG c.1680
V G N K D R A A V R D L N L N L Y E G Q p.560
. . . . . . g.46343
ATCACCGTCCTGCTGGGCCACAACGGTGCCGGGAAGACCACCACCCTCTCCATGCTCACA c.1740
I T V L L G H N G A G K T T T L S M L T p.580
| 15 . . . . . . g.47265
G | GTCTCTTTCCCCCCACCAGTGGACGGGCATACATCAGCGGGTATGAAATTTCCCAGGAC c.1800
G | L F P P T S G R A Y I S G Y E I S Q D p.600
. . . . . . g.47325
ATGGTTCAGATCCGGAAGAGCCTGGGCCTGTGCCCGCAGCACGACATCCTGTTTGACAAC c.1860
M V Q I R K S L G L C P Q H D I L F D N p.620
. . . | 16 . . . g.47849
TTGACAGTCGCAGAGCACCTTTATTTCTACGCCCAG | CTGAAGGGCCTGTCACGTCAGAAG c.1920
L T V A E H L Y F Y A Q | L K G L S R Q K p.640
. . . . . . g.47909
TGCCCTGAAGAAGTCAAGCAGATGCTGCACATCATCGGCCTGGAGGACAAGTGGAACTCA c.1980
C P E E V K Q M L H I I G L E D K W N S p.660
. . . . . . g.47969
CGGAGCCGCTTCCTGAGCGGGGGCATGAGGCGCAAGCTCTCCATCGGCATCGCCCTCATC c.2040
R S R F L S G G M R R K L S I G I A L I p.680
. | 17 . . . . . g.48255
GCAGGCTCCAAG | GTGCTGATACTGGACGAGCCCACCTCGGGCATGGACGCCATCTCCAGG c.2100
A G S K | V L I L D E P T S G M D A I S R p.700
. . . . . . g.48315
AGGGCCATCTGGGATCTTCTTCAGCGGCAGAAAAGTGACCGCACCATCGTGCTGACCACC c.2160
R A I W D L L Q R Q K S D R T I V L T T p.720
. . . . . . g.48375
CACTTCATGGACGAGGCTGACCTGCTGGGAGACCGCATCGCCATCATGGCCAAGGGGGAG c.2220
H F M D E A D L L G D R I A I M A K G E p.740
. . . . | 18 . . g.50023
CTGCAGTGCTGCGGGTCCTCGCTGTTCCTCAAGCAGAAATACG | GTGCCGGCTATCACATG c.2280
L Q C C G S S L F L K Q K Y G | A G Y H M p.760
. . . . . . g.50083
ACGCTGGTGAAGGAGCCGCACTGCAACCCGGAAGACATCTCCCAGCTGGTCCACCACCAC c.2340
T L V K E P H C N P E D I S Q L V H H H p.780
. . . . . . g.50143
GTGCCCAACGCCACGCTGGAGAGCAGCGCTGGGGCCGAGCTGTCTTTCATCCTTCCCAGA c.2400
V P N A T L E S S A G A E L S F I L P R p.800
. | 19 . . . . . g.53554
GAGAGCACGCACAG | GTTTGAAGGTCTCTTTGCTAAACTGGAGAAGAAGCAGAAAGAGCTG c.2460
E S T H R | F E G L F A K L E K K Q K E L p.820
. . . . . | 20 . g.56133
GGCATTGCCAGCTTTGGGGCATCCATCACCACCATGGAGGAAGTCTTCCTTCG | GGTCGGG c.2520
G I A S F G A S I T T M E E V F L R | V G p.840
. . . . . . g.56193
AAGCTGGTGGACAGCAGTATGGACATCCAGGCCATCCAGCTCCCTGCCCTGCAGTACCAG c.2580
K L V D S S M D I Q A I Q L P A L Q Y Q p.860
. . . . . . g.56253
CACGAGAGGCGCGCCAGCGACTGGGCTGTGGACAGCAACCTCTGTGGGGCCATGGACCCC c.2640
H E R R A S D W A V D S N L C G A M D P p.880
. . . . . . g.56313
TCCGACGGCATTGGAGCCCTCATCGAGGAGGAGCGCACCGCTGTCAAGCTCAACACTGGG c.2700
S D G I G A L I E E E R T A V K L N T G p.900
| 21 . . . . . . g.57477
| CTCGCCCTGCACTGCCAGCAATTCTGGGCCATGTTCCTGAAGAAGGCCGCATACAGCTGG c.2760
| L A L H C Q Q F W A M F L K K A A Y S W p.920
. . . . . . g.57537
CGCGAGTGGAAAATGGTGGCGGCACAGGTCCTGGTGCCTCTGACCTGCGTCACCCTGGCC c.2820
R E W K M V A A Q V L V P L T C V T L A p.940
. . . . . . g.57597
CTCCTGGCCATCAACTACTCCTCGGAGCTCTTCGACGACCCCATGCTGAGGCTGACCTTG c.2880
L L A I N Y S S E L F D D P M L R L T L p.960
. . . . . . g.57657
GGCGAGTACGGCAGAACCGTCGTGCCCTTCTCAGTTCCCGGGACCTCCCAGCTGGGTCAG c.2940
G E Y G R T V V P F S V P G T S Q L G Q p.980
. . . . . . g.57717
CAGCTGTCAGAGCATCTGAAAGACGCACTGCAGGCTGAGGGACAGGAGCCCCGCGAGGTG c.3000
Q L S E H L K D A L Q A E G Q E P R E V p.1000
| 22 . . . . . . g.58835
CTCG | GTGACCTGGAGGAGTTCTTGATCTTCAGGGCTTCTGTGGAGGGGGGCGGCTTTAAT c.3060
L G | D L E E F L I F R A S V E G G G F N p.1020
. . . . . . g.58895
GAGCGGTGCCTTGTGGCAGCGTCCTTCAGAGATGTGGGAGAGCGCACGGTCGTCAACGCC c.3120
E R C L V A A S F R D V G E R T V V N A p.1040
. . . . . . g.58955
TTGTTCAACAACCAGGCGTACCACTCTCCAGCCACTGCCCTGGCCGTCGTGGACAACCTT c.3180
L F N N Q A Y H S P A T A L A V V D N L p.1060
. . . . . . g.59015
CTGTTCAAGCTGCTGTGCGGGCCTCACGCCTCCATTGTGGTCTCCAACTTCCCCCAGCCC c.3240
L F K L L C G P H A S I V V S N F P Q P p.1080
. . . | 23 . . g.60122
CGGAGCGCCCTGCAGGCTGCCAAGGACCAGTTTAACGA | GGGCCGGAAGGGATTCGACATT c.3300
R S A L Q A A K D Q F N E | G R K G F D I p.1100
. . . . . . g.60182
GCCCTCAACCTGCTCTTCGCCATGGCATTCTTGGCCAGCACGTTCTCCATCCTGGCGGTC c.3360
A L N L L F A M A F L A S T F S I L A V p.1120
. . . . . . g.60242
AGCGAGAGGGCCGTGCAGGCCAAGCATGTGCAGTTTGTGAGTGGAGTCCACGTGGCCAGT c.3420
S E R A V Q A K H V Q F V S G V H V A S p.1140
. . . . . . g.60302
TTCTGGCTCTCTGCTCTGCTGTGGGACCTCATCTCCTTCCTCATCCCCAGTCTGCTGCTG c.3480
F W L S A L L W D L I S F L I P S L L L p.1160
| 24 . . . . . . g.60805
CTG | GTGGTGTTTAAGGCCTTCGACGTGCGTGCCTTCACGCGGGACGGCCACATGGCTGAC c.3540
L | V V F K A F D V R A F T R D G H M A D p.1180
. . . . . . g.60865
ACCCTGCTGCTGCTCCTGCTCTACGGCTGGGCCATCATCCCCCTCATGTACCTGATGAAC c.3600
T L L L L L L Y G W A I I P L M Y L M N p.1200
. . . . . . g.60925
TTCTTCTTCTTGGGGGCGGCCACTGCCTACACGAGGCTGACCATCTTCAACATCCTGTCA c.3660
F F F L G A A T A Y T R L T I F N I L S p.1220
. . . . | 25 . . g.61326
GGCATCGCCACCTTCCTGATGGTCACCATCATGCGCATCCCAG | CTGTAAAACTGGAAGAA c.3720
G I A T F L M V T I M R I P A | V K L E E p.1240
. . . . . . g.61386
CTTTCCAAAACCCTGGATCACGTGTTCCTGGTGCTGCCCAACCACTGTCTGGGGATGGCA c.3780
L S K T L D H V F L V L P N H C L G M A p.1260
. . . . . . g.61446
GTCAGCAGTTTCTACGAGAACTACGAGACGCGGAGGTACTGCACCTCCTCCGAGGTCGCC c.3840
V S S F Y E N Y E T R R Y C T S S E V A p.1280
. . | 26 . . . . g.62426
GCCCACTACTGCAAGAAATATA | ACATCCAGTACCAGGAGAACTTCTATGCCTGGAGCGCC c.3900
A H Y C K K Y N | I Q Y Q E N F Y A W S A p.1300
. . . . . . g.62486
CCGGGGGTCGGCCGGTTTGTGGCCTCCATGGCCGCCTCAGGGTGCGCCTACCTCATCCTG c.3960
P G V G R F V A S M A A S G C A Y L I L p.1320
. . . . . . g.62546
CTCTTCCTCATCGAGACCAACCTGCTTCAGAGACTCAGGGGCATCCTCTGCGCCCTCCGG c.4020
L F L I E T N L L Q R L R G I L C A L R p.1340
. | 27 . . . . . g.64282
AGGAGGCGGACACTG | ACAGAATTATACACCCGGATGCCTGTGCTTCCTGAGGACCAAGAT c.4080
R R R T L | T E L Y T R M P V L P E D Q D p.1360
. . . . . . g.64342
GTAGCGGACGAGAGGACCCGCATCCTGGCCCCCAGCCCGGACTCCCTGCTCCACACACCT c.4140
V A D E R T R I L A P S P D S L L H T P p.1380
. . | 28 . . . . g.64561
CTGATTATCAAGGAGCTCTCCAAG | GTGTACGAGCAGCGGGTGCCCCTCCTGGCCGTGGAC c.4200
L I I K E L S K | V Y E Q R V P L L A V D p.1400
. . . . . . g.64621
AGGCTCTCCCTCGCGGTGCAGAAAGGGGAGTGCTTCGGCCTGCTGGGCTTCAATGGAGCC c.4260
R L S L A V Q K G E C F G L L G F N G A p.1420
. . . . . . g.64681
GGGAAGACCACGACTTTCAAAATGCTGACCGGGGAGGAGAGCCTCACTTCTGGGGATGCC c.4320
G K T T T F K M L T G E E S L T S G D A p.1440
. . . | 29 . . g.66637
TTTGTCGGGGGTCACAGAATCAGCTCTGATGTCGGAAAG | GTGCGGCAGCGGATCGGCTAC c.4380
F V G G H R I S S D V G K | V R Q R I G Y p.1460
. . . . . . g.66697
TGCCCGCAGTTTGATGCCTTGCTGGACCACATGACAGGCCGGGAGATGCTGGTCATGTAC c.4440
C P Q F D A L L D H M T G R E M L V M Y p.1480
. . . . . . g.66757
GCTCGGCTCCGGGGCATCCCTGAGCGCCACATCGGGGCCTGCGTGGAGAACACTCTGCGG c.4500
A R L R G I P E R H I G A C V E N T L R p.1500
. . . . | 30. . g.67301
GGCCTGCTGCTGGAGCCACATGCCAACAAGCTGGTCAGGACGTACAG | TGGTGGTAACAAG c.4560
G L L L E P H A N K L V R T Y S | G G N K p.1520
. . . . . . g.67361
CGGAAGCTGAGCACCGGCATCGCCCTGATCGGAGAGCCTGCTGTCATCTTCCTGGACGAG c.4620
R K L S T G I A L I G E P A V I F L D E p.1540
. . . . . . g.67421
CCGTCCACTGGCATGGACCCCGTGGCCCGGCGCCTGCTTTGGGACACCGTGGCACGAGCC c.4680
P S T G M D P V A R R L L W D T V A R A p.1560
. . . | 31 . . g.67699
CGAGAGTCTGGCAAGGCCATCATCATCACCTCCCACAG | CATGGAGGAGTGTGAGGCCCTG c.4740
R E S G K A I I I T S H S | M E E C E A L p.1580
. . . . . . g.67759
TGCACCCGGCTGGCCATCATGGTGCAGGGGCAGTTCAAGTGCCTGGGCAGCCCCCAGCAC c.4800
C T R L A I M V Q G Q F K C L G S P Q H p.1600
. . . . . . g.67819
CTCAAGAGCAAGTTCGGCAGCGGCTACTCCCTGCGGGCCAAGGTGCAGAGTGAAGGGCAA c.4860
L K S K F G S G Y S L R A K V Q S E G Q p.1620
. . . . | 32 . g.68087
CAGGAGGCGCTGGAGGAGTTCAAGGCCTTCGTGGACCTGACCTTTCCAG | GCAGCGTCCTG c.4920
Q E A L E E F K A F V D L T F P G | S V L p.1640
. . . . . . g.68147
GAAGATGAGCACCAAGGCATGGTCCATTACCACCTGCCGGGCCGTGACCTCAGCTGGGCG c.4980
E D E H Q G M V H Y H L P G R D L S W A p.1660
| 33 . . . . . . g.68998
AAG | GTTTTCGGTATTCTGGAGAAAGCCAAGGAAAAGTACGGCGTGGACGACTACTCCGTG c.5040
K | V F G I L E K A K E K Y G V D D Y S V p.1680
. . . . . . g.69058
AGCCAGATCTCGCTGGAACAGGTCTTCCTGAGCTTCGCCCACCTGCAGCCGCCCACCGCA c.5100
S Q I S L E Q V F L S F A H L Q P P T A p.1700
. g.69073
GAGGAGGGGCGATGA c.5115
E E G R X p.1704
. . . . . . g.69133
ggggtggcggctgtctcgccatcaggcagggacaggacgggcaagcagggcccatcttac c.*60
. . . . . . g.69193
atcctctctctccaagtttatctcatcctttatttttaatcacttttttctatgatggat c.*120
. . . . . . g.69253
atgaaaaattcaaggcagtatgcacagaatggacgagtgcagcccagccctcatgcccag c.*180
. . . . . . g.69313
gatcagcatgcgcatctccatgtctgcatactctggagttcactttcccagagctggggc c.*240
. . . . . . g.69373
aggccgggcagtctgcgggcaagctccggggtctctgggtggagagctgacccaggaagg c.*300
. . . . . . g.69433
gctgcagctgagctgggggttgaatttctccaggcactccctggagagaggacccagtga c.*360
. . . . . . g.69493
cttgtccaagtttacacacgacactaatctcccctggggaggaagcgggaagccagccag c.*420
. . . . . . g.69553
gttgaactgtagcgaggcccccaggccgccaggaatggaccatgcagatcactgtcagtg c.*480
. . . . . . g.69613
gagggaagctgctgactgtgattaggtgctggggtcttagcgtccagcgcagcccggggg c.*540
. . . . . . g.69673
catcctggaggctctgctccttagggcatggtagtcaccgcgaagccgggcaccgtccca c.*600
. . . . . . g.69733
cagcatctcctagaagcagccggcacaggagggaaggtggccaggctcgaagcagtctct c.*660
. . . . . . g.69793
gtttccagcactgcaccctcaggaagtcgcccgccccaggacacgcagggaccaccctaa c.*720
. . . . . . g.69853
gggctgggtggctgtctcaaggacacattgaatacgttgtgaccatccagaaaataaatg c.*780
. g.69869
ctgaggggacacagtc c.*796
(downstream sequence)
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