(used for variant description)
(last modified September 19, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_007356.2 in the LAMB4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering LAMB4 transcript NM_007356.2.
(upstream sequence)
. . g.5024
cacatgccccgtttgctgcctgaa c.-61
. . . | 02 . . . g.12192
cctctccacaaagactcccagatcctg | tagaattgaatttaatcatctcctgacaaaaga c.-1
. . . | 03 . . . g.19221
ATGCAATTTCAACTGACCCTTTTTTTGCACCTTG | GGTGGCTCAGTTACTCAAAAGCTCAA c.60
M Q F Q L T L F L H L G | W L S Y S K A Q p.20
. . . . . . g.19281
GATGACTGCAACAGGGGTGCCTGTCATCCCACCACTGGTGATCTCCTGGTGGGCAGGAAC c.120
D D C N R G A C H P T T G D L L V G R N p.40
. . . . . . g.19341
ACGCAGCTTATGGCTTCTTCTACCTGTGGGCTGAGCAGAGCCCAGAAATACTGCATCCTC c.180
T Q L M A S S T C G L S R A Q K Y C I L p.60
. | 04 . . . . . g.23458
AGTTACCTGGAG | GGGGAACAAAAATGCTTCATCTGTGACTCTAGATTTCCATATGATCCG c.240
S Y L E | G E Q K C F I C D S R F P Y D P p.80
. . . . . . g.23518
TATGACCAACCCAACAGCCACACCATTGAGAATGTCATTGTAAGTTTTGAACCAGACAGA c.300
Y D Q P N S H T I E N V I V S F E P D R p.100
. . | 05 . . . g.26144
GAAAAGAAATGGTGGCAATCTGAAAATG | GTCTTGATCATGTCAGCATCAGACTGGACTTA c.360
E K K W W Q S E N G | L D H V S I R L D L p.120
. . . . | 06 . . g.27555
GAGGCATTATTTCGGTTCAGCCACCTTATCCTGACCTTTAAG | ACTTTTCGGCCTGCTGCA c.420
E A L F R F S H L I L T F K | T F R P A A p.140
. . . . . . g.27615
ATGTTAGTTGAACGTTCCACAGACTATGGACACAACTGGAAAGTGTTCAAATATTTTGCA c.480
M L V E R S T D Y G H N W K V F K Y F A p.160
. . . . . . g.27675
AAAGACTGTGCCACTTCCTTTCCTAACATCACATCTGGCCAGGCCCAGGGAGTGGGAGAC c.540
K D C A T S F P N I T S G Q A Q G V G D p.180
. . . . . | 07 . g.28793
ATTGTTTGTGACTCCAAATACTCGGATATTGAACCCTCAACAGGTGGAGAG | GTTGTTTTA c.600
I V C D S K Y S D I E P S T G G E | V V L p.200
. . . . . | 08 . g.29330
AAAGTTTTGGATCCCAGTTTTGAAATTGAAAACCCTTATAGCCCCTACATCCAAG | ACCTT c.660
K V L D P S F E I E N P Y S P Y I Q D | L p.220
. . . . . . g.29390
GTGACATTGACAAACCTGAGGATAAACTTTACCAAGCTCCACACCCTTGGGGATGCTTTG c.720
V T L T N L R I N F T K L H T L G D A L p.240
. . . . . . g.29450
CTTGGAAGGAGGCAAAATGATTCCCTTGATAAATACTACTATGCTCTGTACGAGATGATT c.780
L G R R Q N D S L D K Y Y Y A L Y E M I p.260
. . . . . . g.29510
GTTCGGGGAAGCTGCTTTTGCAATGGCCATGCTAGCGAATGTCGCCCTATGCAGAAGATG c.840
V R G S C F C N G H A S E C R P M Q K M p.280
. . . | 09 . . . g.30767
CGGGGAGATGTTTTCAGCCCTCCTGGAATG | GTTCACGGTCAGTGTGTGTGTCAGCACAAT c.900
R G D V F S P P G M | V H G Q C V C Q H N p.300
. . . . . . g.30827
ACAGATGGTCCGAACTGTGAGAGATGCAAGGACTTCTTCCAGGATGCTCCTTGGAGGCCA c.960
T D G P N C E R C K D F F Q D A P W R P p.320
. . . | 10 . . . g.32153
GCTGCAGACCTCCAGGACAACGCTTGCAGAT | CGTGCAGCTGTAATAGCCACTCCAGCCGC c.1020
A A D L Q D N A C R S | C S C N S H S S R p.340
. . . . . . g.32213
TGTCACTTTGACATGACTACGTACCTGGCAAGCGGTGGCCTCAGCGGGGGCGTGTGTGAA c.1080
C H F D M T T Y L A S G G L S G G V C E p.360
. . . . . . g.32273
GACTGCCAGCACAACACTGAGGGGCAGCACTGCGACCGCTGCAGACCCCTCTTCTACAGG c.1140
D C Q H N T E G Q H C D R C R P L F Y R p.380
. . . . | 11 . . g.36794
GACCCGCTCAAGACCATCTCAGATCCCTACGCGTGCATTC | CTTGTGAATGTGACCCCGAT c.1200
D P L K T I S D P Y A C I P | C E C D P D p.400
. . . . . . g.36854
GGGACCATATCTGGTGGCATTTGTGTGAGCCACTCTGATCCTGCCTTAGGGTCTGTGGCC c.1260
G T I S G G I C V S H S D P A L G S V A p.420
. . . . . . g.36914
GGCCAGTGCCTTTGTAAAGAGAACGTGGAAGGAGCCAAATGCGACCAGTGCAAACCCAAC c.1320
G Q C L C K E N V E G A K C D Q C K P N p.440
. . . . | 12 . . g.40039
CACTACGGACTAAGCGCCACCGACCCCCTGGGCTGCCAGC | CCTGCGACTGTAACCCCCTT c.1380
H Y G L S A T D P L G C Q P | C D C N P L p.460
. . . . . . g.40099
GGGAGTCTGCCATTCTTGACCTGTGATGTGGATACAGGCCAATGCTTGTGCCTGTCATAT c.1440
G S L P F L T C D V D T G Q C L C L S Y p.480
. . . | 13 . . . g.42970
GTCACCGGAGCACACTGCGAAGAATGCACT | GTTGGATACTGGGGCCTGGGAAATCATCTC c.1500
V T G A H C E E C T | V G Y W G L G N H L p.500
. . . . . | 14 . g.43590
CATGGGTGTTCTCCCTGTGACTGTGATATTGGAGGTGCTTATTCTAACGT | GTGCTCACCC c.1560
H G C S P C D C D I G G A Y S N V | C S P p.520
. . . . . . g.43650
AAGAATGGGCAGTGTGAATGCCGCCCACATGTCACTGGCCGTAGCTGCTCTGAACCAGCC c.1620
K N G Q C E C R P H V T G R S C S E P A p.540
. . . . . . g.43710
CCTGGCTACTTCTTTGCTCCTTTGAATTTCTATCTCTACGAGGCAGAGGAAGCCACAACA c.1680
P G Y F F A P L N F Y L Y E A E E A T T p.560
. . | 15 . . . . g.55609
CTCCAAGGACTGGCGCCTTTG | GGCTCGGAGACGTTTGGCCAGAGTCCTGCTGTTCACGTT c.1740
L Q G L A P L | G S E T F G Q S P A V H V p.580
. . . . . . g.55669
GTTTTAGGAGAGCCAGTTCCTGGGAACCCTGTTACATGGACTGGACCTGGATTTGCCAGG c.1800
V L G E P V P G N P V T W T G P G F A R p.600
. . . . . . g.55729
GTTCTCCCTGGGGCTGGCTTGAGATTTGCTGTCAACAACATTCCCTTTCCTGTGGACTTC c.1860
V L P G A G L R F A V N N I P F P V D F p.620
. . | 16. . . . g.57073
ACCATTGCCATTCACTATGAAACCCAG | TCTGCAGCTGACTGGACTGTCCAGATTGTGGTG c.1920
T I A I H Y E T Q | S A A D W T V Q I V V p.640
. . . . . . g.57133
AACCCCCCTGGAGGGAGTGAGCACTGCATACCCAAGACTCTACAGTCAAAGCCTCAGTCT c.1980
N P P G G S E H C I P K T L Q S K P Q S p.660
. . | 17 . . . . g.58329
TTTGCCTTACCAGCGGCTACGAG | AATCATGCTGCTTCCCACACCCATCTGTTTAGAACCA c.2040
F A L P A A T R | I M L L P T P I C L E P p.680
. . . . . . g.58389
GATGTACAATATTCCATAGATGTCTATTTTTCTCAGCCTTTGCAAGGAGAGTCCCACGCT c.2100
D V Q Y S I D V Y F S Q P L Q G E S H A p.700
. . | 18 . . . . g.65507
CATTCACATGTCCTGGTGGACTCT | CTTGGCCTTATTCCCCAAATCAATTCATTGGAGAAT c.2160
H S H V L V D S | L G L I P Q I N S L E N p.720
. . . . . . g.65567
TTCTGCAGCAAGCAGGACTTAGATGAGTATCAGCTTCACAACTGTGTTGAAATTGCCTCA c.2220
F C S K Q D L D E Y Q L H N C V E I A S p.740
. . . . . . g.65627
GCAATGGGACCTCAAGTGCTCCCGGGTGCCTGTGAAAGGCTGATCATCAGCATGTCTGCC c.2280
A M G P Q V L P G A C E R L I I S M S A p.760
. . | 19 . . . . g.67235
AAGCTGCATGATGGGGCTGTGG | CCTGCAAGTGTCACCCCCAGGGCTCAGTCGGATCCAGC c.2340
K L H D G A V A | C K C H P Q G S V G S S p.780
. . . . . . g.67295
TGCAGCCGACTTGGAGGCCAGTGCCAGTGTAAACCTCTTGTGGTCGGGCGCTGCTGTGAC c.2400
C S R L G G Q C Q C K P L V V G R C C D p.800
. . . . | 20 . . g.68770
AGGTGCTCAACTGGAAGCTATGATTTGGGGCATCACGGCTGTCACC | CATGTCACTGCCAT c.2460
R C S T G S Y D L G H H G C H P | C H C H p.820
. . . . . . g.68830
CCTCAAGGATCAAAGGACACTGTATGTGACCAAGTAACAGGACAGTGCCCCTGCCATGGA c.2520
P Q G S K D T V C D Q V T G Q C P C H G p.840
. . . . . . g.68890
GAGGTGTCTGGCCGCCGCTGTGATCGCTGCCTGGCAGGCTACTTTGGATTTCCCAGCTGC c.2580
E V S G R R C D R C L A G Y F G F P S C p.860
. . . . . . g.68950
CACCCTTGCCCTTGTAATAGGTTTGCTGAACTTTGTGATCCTGAGACAGGGTCATGCTTC c.2640
H P C P C N R F A E L C D P E T G S C F p.880
. . . | 21 . . g.69459
AATTGTGGAGGCTTTACAACTGGCAGAAACTGTGAAAG | GTGTATTGATGGTTACTATGGA c.2700
N C G G F T T G R N C E R | C I D G Y Y G p.900
. . . . . . g.69519
AATCCTTCTTCAGGACAGCCCTGTCGTCCTTGCCTGTGTCCAGATGATCCCTCAAGCAAT c.2760
N P S S G Q P C R P C L C P D D P S S N p.920
. . . . . . g.69579
CAGTATTTTGCCCATTCCTGTTATCAGAATCTGTGGAGCTCAGATGTAATCTGCAATTGT c.2820
Q Y F A H S C Y Q N L W S S D V I C N C p.940
. | 22 . . . . . g.71415
CTTCAAGGTTATACGG | GTACTCAGTGTGGAGAATGCTCTACTGGTTTCTATGGAAATCCA c.2880
L Q G Y T G | T Q C G E C S T G F Y G N P p.960
. . . . . . g.71475
AGAATTTCAGGAGCACCTTGCCAACCATGTGCCTGCAACAACAACATAGATGTAACCGAT c.2940
R I S G A P C Q P C A C N N N I D V T D p.980
. . . . . . g.71535
CCAGAGTCCTGCAGCCGGGTAACAGGGGAGTGCCTTCGATGTTTGCACAACACTCAGGGC c.3000
P E S C S R V T G E C L R C L H N T Q G p.1000
. . . . . . g.71595
GCAAACTGCCAGCTCTGCAAACCAGGTCACTATGGATCAGCCCTCAATCAGACCTGCAGA c.3060
A N C Q L C K P G H Y G S A L N Q T C R p.1020
| 23 . . . . . . g.72421
A | GATGCTCCTGCCATGCTTCCGGCGTGAGTCCCATGGAGTGTCCCCCTGGTGGGGGAGCT c.3120
R | C S C H A S G V S P M E C P P G G G A p.1040
. . . . . . g.72481
TGCCTCTGTGACCCTGTCACTGGTGCATGTCCTTGTCTGCCGAATGTCACAGGCCTGGCC c.3180
C L C D P V T G A C P C L P N V T G L A p.1060
. . . . . . g.72541
TGTGACCGTTGTGCTGATGGATACTGGAATCTGGTCCCTGGCAGAGGATGTCAGTCATGT c.3240
C D R C A D G Y W N L V P G R G C Q S C p.1080
. . . . | 24 . . g.77446
GACTGTGACCCTAGGACCTCTCAAAGTAGCCACTGTGACCAG | CTTACAGGCCAGTGTCCG c.3300
D C D P R T S Q S S H C D Q | L T G Q C P p.1100
. . . . . . g.77506
TGTAAATTAGGTTACGGCGGGAAACGTTGCAGTGAGTGCCAGGAAAATTATTATGGTGAT c.3360
C K L G Y G G K R C S E C Q E N Y Y G D p.1120
. | 25 . . . . g.79390
CCACCTGGGCGATGCATTC | CATGTGATTGTAACAGGGCAGGTACCCAGAAGCCCATCTGT c.3420
P P G R C I P | C D C N R A G T Q K P I C p.1140
. . . . . . g.79450
GATCCAGACACAGGCATGTGCCGCTGCCGGGAGGGTGTCAGCGGCCAGAGATGTGATCGC c.3480
D P D T G M C R C R E G V S G Q R C D R p.1160
. . . . . . g.79510
TGTGCCCGGGGACACAGCCAGGAATTCCCTACTTGTCTTCAATGTCACTTGTGCTTTGAT c.3540
C A R G H S Q E F P T C L Q C H L C F D p.1180
. . . . . . g.79570
CAGTGGGACCACACCATTTCTTCCCTCTCCAAAGCGGTGCAAGGGTTAATGAGACTGGCT c.3600
Q W D H T I S S L S K A V Q G L M R L A p.1200
. . . . . . g.79630
GCTAACATGGAAGATAAAAGAGAGACCCTGCCTGTCTGTGAGGCAGACTTCAAAGACCTC c.3660
A N M E D K R E T L P V C E A D F K D L p.1220
. . . . . . g.79690
AGAGGGAACGTGTCTGAAATAGAAAGGATTTTGAAACATCCTGTTTTCCCATCTGGGAAA c.3720
R G N V S E I E R I L K H P V F P S G K p.1240
. . . | 26 . . . g.83124
TTCTTAAAAGTCAAGGATTATCATGACTCTGTTAG | AAGACAAATCATGCAGCTAAATGAA c.3780
F L K V K D Y H D S V R | R Q I M Q L N E p.1260
. . . . . . g.83184
CAACTGAAAGCAGTGTATGAATTTCAAGATCTGAAAGATACAATAGAAAGAGCAAAGAAT c.3840
Q L K A V Y E F Q D L K D T I E R A K N p.1280
. . . . . . g.83244
GAAGCAGACCTCTTACTTGAAGACCTTCAGGAAGAAATTGATTTGCAATCCAGTGTCCTT c.3900
E A D L L L E D L Q E E I D L Q S S V L p.1300
. | 27 . . . . . g.85869
AATGCAAGCATTGCGG | ACTCCTCAGAAAACATCAAGAAATATTATCACATATCATCATCT c.3960
N A S I A D | S S E N I K K Y Y H I S S S p.1320
. . . . . . g.85929
GCTGAAAAGAAAATTAATGAAACTAGTTCCACCATTAATACCTCTGCAAATACAAGGAAT c.4020
A E K K I N E T S S T I N T S A N T R N p.1340
. . . . . . g.85989
GACTTACTTACCATCTTAGATACACTAACCTCAAAAGGAAACTTGTCATTGGAAAGATTA c.4080
D L L T I L D T L T S K G N L S L E R L p.1360
. . . . | 28 . . g.87263
AAGCAGATTAAGATACCAGATATCCAAATATTGAATGAAAAG | GTGTGCGGAGATCCAGGA c.4140
K Q I K I P D I Q I L N E K | V C G D P G p.1380
. . . . . . g.87323
AATGTGCCATGTGTGCCCTTGCCCTGTGGCGGTGCTCTCTGCACGGGCCGGAAGGGGCAC c.4200
N V P C V P L P C G G A L C T G R K G H p.1400
. . . . . . g.87383
AGGAAGTGTAGGGGTCCCGGCTGTCACGGCTCCCTGACCCTCTCAACGAATGCCCTCCAA c.4260
R K C R G P G C H G S L T L S T N A L Q p.1420
. . . . . . g.87443
AAAGCCCAGGAAGCAAAATCCATTATTCGTAATTTGGACAAACAGGTTCGTGGGTTGAAA c.4320
K A Q E A K S I I R N L D K Q V R G L K p.1440
| 29 . . . . . . g.91514
AATCAG | ATCGAAAGTATAAGTGAACAGGCAGAAGTCTCCAAAAACAATGCCTTACAGCTG c.4380
N Q | I E S I S E Q A E V S K N N A L Q L p.1460
. . . . . . g.91574
AGGGAAAAACTGGGAAATATAAGAAACCAAAGTGACTCTGAAGAAGAAAACATCAATCTT c.4440
R E K L G N I R N Q S D S E E E N I N L p.1480
. . . | 30 . . . g.97790
TTCATCAAAAAAGTGAAAAACTTTTTGTTAG | AGGAAAACGTGCCTCCAGAAGACATCGAG c.4500
F I K K V K N F L L E | E N V P P E D I E p.1500
. . . . . . g.97850
AAGGTTGCGAATGGTGTGCTTGACATTCACCTACCAATTCCATCCCAAAATCTAACCGAT c.4560
K V A N G V L D I H L P I P S Q N L T D p.1520
. . . . . . g.97910
GAACTTGTCAAAATACAGAAACATATGCAACTCTGTGAGGATTACAGGACAGATGAAAAC c.4620
E L V K I Q K H M Q L C E D Y R T D E N p.1540
. . . . . | 31 g.101011
AGGTTAAATGAAGAAGCAGATGGAGCCCAAAAGCTTTTGGTGAAGGCCAAAGCAGCTGA | G c.4680
R L N E E A D G A Q K L L V K A K A A E | p.1560
. . . . . . g.101071
AAAGCAGCAAATATTCTATTAAATCTTGACAAAACATTGAACCAGTTACAACAAGCTCAA c.4740
K A A N I L L N L D K T L N Q L Q Q A Q p.1580
. . . . . . g.101131
ATCACTCAAGGACGGGCAAACTCTACCATTACACAGCTGACTGCCAATATAACAAAAATA c.4800
I T Q G R A N S T I T Q L T A N I T K I p.1600
. | 32 . . . . g.104419
AAAAAGAATGTGCTGCAG | GCTGAAAATCAAACCAGGGAAATGAAGAGTGAGCTGGAGTTA c.4860
K K N V L Q | A E N Q T R E M K S E L E L p.1620
. . . . . . g.104479
GCAAAGCAGCGATCAGGGCTGGAGGATGGACTTTCCCTGCTGCAGACCAAGTTGCAAAGG c.4920
A K Q R S G L E D G L S L L Q T K L Q R p.1640
. . . . . . g.104539
CATCAAGACCACGCTGTCAATGCGAAAGTTCAGGCTGAATCTGCCCAACACCAGGCTGGG c.4980
H Q D H A V N A K V Q A E S A Q H Q A G p.1660
. | 33 . . . . . g.106208
AGTCTTGAGAAG | GAATTTGTTGAGCTGAAAAAACAATATGCTATTCTCCAACGTAAGACA c.5040
S L E K | E F V E L K K Q Y A I L Q R K T p.1680
. . . . . . g.106268
AGCACTACAGGACTAACAAAGGAGACATTAGGAAAAGTTAAACAGCTAAAAGATGCGGCA c.5100
S T T G L T K E T L G K V K Q L K D A A p.1700
. . . . | 34 . . g.111192
GAAAAATTGGCTGGAGATACAGAGGCCAAGATAAGAAGAATAACAG | ATTTAGAAAGGAAA c.5160
E K L A G D T E A K I R R I T D | L E R K p.1720
. . . . . . g.111252
ATCCAAGATTTGAATCTAAGTAGACAAGCAAAAGCTGATCAACTGAGAATATTGGAAGAT c.5220
I Q D L N L S R Q A K A D Q L R I L E D p.1740
. . . . . . g.111312
CAAGTTGTTGCCATTAAAAATGAAATTGTTGAACAAGAAAAAAAATATGCTAGGTGCTAT c.5280
Q V V A I K N E I V E Q E K K Y A R C Y p.1760
g.111318
AGCTAG c.5286
S X p.1761
. . . . . . g.111378
gcagagttaaagagcaaaagcttgtgcctttgtttctggtttctgatgtacaagcccctg c.*60
. . . . . . g.111438
gggctctgttgaacctgtgaaatactgacaatgtcttctaccttccttccccacaccctg c.*120
. . . . . . g.111498
tccttattagacacctgctcagtgtggctggaggttgaaatgccaccaggaaaatgccac c.*180
. . . . . . g.111558
ttcataattgaaaggggaaagtaatgaaattgtctctggtttcagaaacttttcctctta c.*240
. . . . . . g.111618
ccttcctttctctttcctaacttaaaaataacagtttccatataacaagtagaaatttaa c.*300
. . . . . . g.111678
gtaagtactctactaactaataatcatttcagtcagataaacctaaacattaaataaata c.*360
. . . . . . g.111738
tctccaatattaggatggaatacatatgtatggcatgtactagattgtcctatattttat c.*420
. . . . . . g.111798
gtttatttggatttgcttttatttgtaaaattattcttttctgaataaactgcatacaat c.*480
g.111806
tcaaaatg c.*488
(downstream sequence)
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