(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001879.5 in the MASP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029440.1, covering MASP1 transcript NM_001879.5.
(upstream sequence)
. . . g.5030
acacacagagtgatacaaatacctgcttga c.-361
. . . . . . g.5090
gcccctcagttattttctctcaagggctgaagtcagccacacaggataaaggagggaagg c.-301
. . . . . . g.5150
gaaggagcagatcttttcggtaggaagacagattttgttgtcaggttcctgggagtgcaa c.-241
. . . . . . g.5210
gagcaagtcaaaggagagagagaggagagaggaaaagccagagggagagagggggagagg c.-181
. . . . . . g.5270
ggatctgttgcaggcaggggaaggcgtgacctgaatggagaatgccagccaattccagag c.-121
. . . . . . g.5330
acacacagggacctcagaacaaagataaggcatcacggacaccacaccgggcacgagctc c.-61
. . . . . . g.5390
acaggcaagtcaagctgggaggaccaaggccgggcagccgggagcacccaaggcaggaaa c.-1
| 02 . . . . . . g.11021
ATGAG | GTGGCTGCTTCTCTATTATGCTCTGTGCTTCTCCCTGTCAAAGGCTTCAGCCCAC c.60
M R | W L L L Y Y A L C F S L S K A S A H p.20
. . . . . . g.11081
ACCGTGGAGCTAAACAATATGTTTGGCCAGATCCAGTCGCCTGGTTATCCAGACTCCTAT c.120
T V E L N N M F G Q I Q S P G Y P D S Y p.40
. . . . . . g.11141
CCCAGTGATTCAGAGGTGACTTGGAATATCACTGTCCCAGATGGGTTTCGGATCAAGCTT c.180
P S D S E V T W N I T V P D G F R I K L p.60
. . . . . | 03. g.34305
TACTTCATGCACTTCAACTTGGAATCCTCCTACCTTTGTGAATATGACTATGTGAAG | GTA c.240
Y F M H F N L E S S Y L C E Y D Y V K | V p.80
. . . . . . g.34365
GAAACTGAGGACCAGGTGCTGGCAACCTTCTGTGGCAGGGAGACCACAGACACAGAGCAG c.300
E T E D Q V L A T F C G R E T T D T E Q p.100
. . . . . . g.34425
ACTCCCGGCCAGGAGGTGGTCCTCTCCCCTGGCTCCTTCATGTCCATCACTTTCCGGTCA c.360
T P G Q E V V L S P G S F M S I T F R S p.120
. . . . . | 04 . g.36155
GATTTCTCCAATGAGGAGCGTTTCACAGGCTTTGATGCCCACTACATGGCTGTGG | ATGTG c.420
D F S N E E R F T G F D A H Y M A V D | V p.140
. . . . . . g.36215
GACGAGTGCAAGGAGAGGGAGGACGAGGAGCTGTCCTGTGACCACTACTGCCACAACTAC c.480
D E C K E R E D E E L S C D H Y C H N Y p.160
. . . . . . g.36275
ATTGGCGGCTACTACTGCTCCTGCCGCTTCGGCTACATCCTCCACACAGACAACAGGACC c.540
I G G Y Y C S C R F G Y I L H T D N R T p.180
| 05. . . . . . g.40215
TGCCGAG | TGGAGTGCAGTGACAACCTCTTCACTCAAAGGACTGGGGTGATCACCAGCCCT c.600
C R V | E C S D N L F T Q R T G V I T S P p.200
. . . . . . g.40275
GACTTCCCAAACCCTTACCCCAAGAGCTCTGAATGCCTGTATACCATCGAGCTGGAGGAG c.660
D F P N P Y P K S S E C L Y T I E L E E p.220
. . . . . . g.40335
GGTTTCATGGTCAACCTGCAGTTTGAGGACATATTTGACATTGAGGACCATCCTGAGGTG c.720
G F M V N L Q F E D I F D I E D H P E V p.240
. . | 06 . . . . g.43743
CCCTGCCCCTATGACTACATCAAG | ATCAAAGTTGGTCCAAAAGTTTTGGGGCCTTTCTGT c.780
P C P Y D Y I K | I K V G P K V L G P F C p.260
. . . . . . g.43803
GGAGAGAAAGCCCCAGAACCCATCAGCACCCAGAGCCACAGTGTCCTGATCCTGTTCCAT c.840
G E K A P E P I S T Q S H S V L I L F H p.280
. . . . . | 07 . g.45278
AGTGACAACTCGGGAGAGAACCGGGGCTGGAGGCTCTCATACAGGGCTGCAG | GAAATGAG c.900
S D N S G E N R G W R L S Y R A A G | N E p.300
. . . . . . g.45338
TGCCCAGAGCTACAGCCTCCTGTCCATGGGAAAATCGAGCCCTCCCAAGCCAAGTATTTC c.960
C P E L Q P P V H G K I E P S Q A K Y F p.320
. . . . . | 08 . g.46702
TTCAAAGACCAAGTGCTCGTCAGCTGTGACACAGGCTACAAAGTGCTGAAG | GATAATGTG c.1020
F K D Q V L V S C D T G Y K V L K | D N V p.340
. . . . . . g.46762
GAGATGGACACATTCCAGATTGAGTGTCTGAAGGATGGGACGTGGAGTAACAAGATTCCC c.1080
E M D T F Q I E C L K D G T W S N K I P p.360
. | 09 . . . . . g.53451
ACCTGTAAAA | TTGTAGACTGTAGAGCCCCAGGAGAGCTGGAACACGGGCTGATCACCTTC c.1140
T C K I | V D C R A P G E L E H G L I T F p.380
. . . . . . g.53511
TCTACAAGGAACAACCTCACCACATACAAGTCTGAGATCAAATACTCCTGTCAGGAGCCC c.1200
S T R N N L T T Y K S E I K Y S C Q E P p.400
. . | 10 . . . g.55499
TATTACAAGATGCTCAACAATAACACAG | GTATATATACCTGTTCTGCCCAAGGAGTCTGG c.1260
Y Y K M L N N N T G | I Y T C S A Q G V W p.420
. . . . | 11 . . g.67142
ATGAATAAAGTATTGGGGAGAAGCCTACCCACCTGCCTTCCAG | TGTGTGGGCTCCCCAAG c.1320
M N K V L G R S L P T C L P V | C G L P K p.440
. . . . . . g.67202
TTCTCCCGGAAGCTGATGGCCAGGATCTTCAATGGACGCCCAGCCCAGAAAGGCACCACT c.1380
F S R K L M A R I F N G R P A Q K G T T p.460
. . . . . . g.67262
CCCTGGATTGCCATGCTGTCACACCTGAATGGGCAGCCCTTCTGCGGAGGCTCCCTTCTA c.1440
P W I A M L S H L N G Q P F C G G S L L p.480
| 12 . . . . . . g.70561
G | GCTCCAGCTGGATCGTGACCGCCGCACACTGCCTCCACCAGTCACTCGATCCGGAAGAT c.1500
G | S S W I V T A A H C L H Q S L D P E D p.500
. . . . . | 13 . g.71518
CCGACCCTACGTGATTCAGACTTGCTCAGCCCTTCTGACTTCAAAATCATCCTGG | GCAAG c.1560
P T L R D S D L L S P S D F K I I L G | K p.520
. . . . . . g.71578
CATTGGAGGCTCCGGTCAGATGAAAATGAACAGCATCTCGGCGTCAAACACACCACTCTC c.1620
H W R L R S D E N E Q H L G V K H T T L p.540
. . . . . . g.71638
CACCCCCAGTATGATCCCAACACATTCGAGAATGACGTGGCTCTGGTGGAGCTGTTGGAG c.1680
H P Q Y D P N T F E N D V A L V E L L E p.560
. . . . . . g.71698
AGCCCAGTGCTGAATGCCTTCGTGATGCCCATCTGTCTGCCTGAGGGACCCCAGCAGGAA c.1740
S P V L N A F V M P I C L P E G P Q Q E p.580
| 14 . . . . . . g.73887
G | GAGCCATGGTCATCGTCAGCGGCTGGGGGAAGCAGTTCTTGCAAAGGTTCCCAGAGACC c.1800
G | A M V I V S G W G K Q F L Q R F P E T p.600
| 15 . . . . . g.75939
CTGATGGAG | ATTGAAATCCCGATTGTTGACCACAGCACCTGCCAGAAGGCTTATGCCCCG c.1860
L M E | I E I P I V D H S T C Q K A Y A P p.620
. . . . | 16 . g.76772
CTGAAGAAGAAAGTGACCAGGGACATGATCTGTGCTGGGGAGAAGGAAG | GGGGAAAGGAC c.1920
L K K K V T R D M I C A G E K E G | G K D p.640
. . . . . . g.76832
GCCTGTGCGGGTGACTCTGGAGGCCCCATGGTGACCCTGAATAGAGAAAGAGGCCAGTGG c.1980
A C A G D S G G P M V T L N R E R G Q W p.660
. . . . . . g.76892
TACCTGGTGGGCACTGTGTCCTGGGGTGATGACTGTGGGAAGAAGGACCGCTACGGAGTA c.2040
Y L V G T V S W G D D C G K K D R Y G V p.680
. . . . . . g.76952
TACTCTTACATCCACCACAACAAGGACTGGATCCAGAGGGTCACCGGAGTGAGGAACTGA c.2100
Y S Y I H H N K D W I Q R V T G V R N X p.699
. . . . . . g.77012
atttggctcctcagccccagcaccaccagctgtgggcagtcagtagcagaggacgatcct c.*60
. . . . . . g.77072
ccgatgaaagcagccatttctcctttccttcctcccatcccccctccttcggcctatcca c.*120
. . . . . . g.77132
ttactgggcaatagagcaggtatcttcacccccttttcactctctttaaagagatggagc c.*180
. . . . . . g.77192
aagagagtggtcagaacacaggccgaatccaggctctatcacttactagtttgcagtgct c.*240
. . . . . . g.77252
gggcaggtgacttcatctcttcgaacttcagtttcttcataagatggaaatgctatacct c.*300
. . . . . . g.77312
tacctacctcgtaaaagtctgatgaggaaaagattaactaatagatgcatagcacttaac c.*360
. . . . . . g.77372
agagtgcatagcatacactgttttcaataaatgcaccttagcagaaggtcgatgtgtcta c.*420
. . . . . . g.77432
ccaggcagacgaagctctcttacaaacccctgcctgggtcttagcattgatcagtgacac c.*480
. . . . . . g.77492
acctctcccctcaaccttgaccatctccatctgcccttaaatgctgtatgcttttttgcc c.*540
. . . . . . g.77552
accgtgcaacttgcccaacatcaatcttcaccctcatccctaaaaaagtaaaacagacaa c.*600
. . . . . . g.77612
ggttctgagtcctgtggtatgtcccctagcaaatgtaactaggaacatgcactagatgac c.*660
. . . . . . g.77672
agattgcgggagggcctgagagaagcagggacaggagggagcctggggattgtggtttgg c.*720
. . . . . . g.77732
gaaggcagacacctggttctagaactagctctgcccttagccccctgtatgaccctatgc c.*780
. . . . . . g.77792
aagtcctcctccctcatctcaaagggtcctcaaagctctgacgatctaagatacaatgaa c.*840
. . . . . . g.77852
gccattttccccctgataagatgaggtaaagccaatgtaaccaaaaggcaaaaattacaa c.*900
. . . . . . g.77912
tcggttcaaaggaactttgatgcagacaaaatgctgctgctgctgctcctgaaataccca c.*960
. . . . . . g.77972
cccctttccactacgggtgggttcccaaggacatgggacaggcaaagtgtgagccaaagg c.*1020
. . . . . . g.78032
atccttccttattcctaagcagagcatctgctctgggccctggcctccttcccttcttgg c.*1080
. . . . . . g.78092
gaaactgggctgcatgaggtgggccctggtagtttgtaccccaggcccctatactcttcc c.*1140
. . . . . . g.78152
ttcctatgtccacagctgaccccaagcagccgttccccgactcctcacccctgagcctca c.*1200
. . . . . . g.78212
ccctgaactccctcatcttgcaaggccataagtgttttccaagcaaaatgcctctcccat c.*1260
. . . . . . g.78272
cctctctcaggaagcttctagagactttatgccctccagagctccaagatataagccctc c.*1320
. . . . . . g.78332
caagggatcagaagctccaagttcctgtcttctgttttatagaaattgatcttccctggg c.*1380
. . . . . . g.78392
ggactttaactcttgacctgtatgcagctgttggagtaattccaggtctcttgaaaaaaa c.*1440
. . . . . . g.78452
agaggaagataatggagaatgagaacatatatatatatatattaagccccaggctgaata c.*1500
. . . . . . g.78512
ctcagggacagcaattcacagcctgcctctggttctataaacaagtcattctacctcttt c.*1560
. . . . . . g.78572
gtgccctgctgtttattctgtaaggggaaggtggcaatgggacccagctccatcagacac c.*1620
. . . . . . g.78632
ttgtcaagctagcagaaactccattttcaatgccaaagaagaactgtaatgctgttttgg c.*1680
. . . . . . g.78692
aatcatcccaaggcatcccaagacaccatatcttcccatttcaagcactgcctgggcaca c.*1740
. . . . . . g.78752
ccccaacatcccaggctgtggtggctcctgtgggaactacctagatgaagagagtatcat c.*1800
. . . . . . g.78812
ttataccttctaggagctcctattgggagacatgaaacatatgtaattgactaccatgta c.*1860
. . . . . . g.78872
atagaacaaaccctgccaagtgctgctttggaaagtcatggaggtaaaagaaagaccatt c.*1920
. . . . . . g.78932
ctggtatgaaggttttgggggaggagatatcaatcaagaaggcttcccagaagaggtgac c.*1980
. . . . . . g.78992
tggaccagagccttgtccacaggtaagacggaggaggccttccacatggagggagaacaa c.*2040
. . . . . . g.79052
tagtaaatgtccactcaagatgtcctttattataccagctcctcccacaaaaacacatgt c.*2100
. . . . . . g.79112
ccagtggactctttttctgggatcagaaccaacaccaaaaagagcttttctccttaaagt c.*2160
. . . . . . g.79172
tagaattctaaacaggacttgaaatggcctcaaggtttgtgcacaaatactgacttctgg c.*2220
. . . . . . g.79232
ctggacccagcttattctgtttatttctccaattgcaatttcatccttatcctgagaaaa c.*2280
. . . . . . g.79292
tgtctaaataggccatggaacccaggcttccccgtgacctacaagcacttattagctgtg c.*2340
. . . . . . g.79352
ccagctcctgcactgctgctaaggtccaagaaacccagatctctcacagagccatagaag c.*2400
. . . . . . g.79412
cagagggctggagtatctgtgaggacaacaaccttgtctaacttcgcgacctcattcttg c.*2460
. . . . . . g.79472
agcatttctactgatgagaaactcactacccccaattgcagctcattcaactttaaaatt c.*2520
. . . . . . g.79532
gctgctttttgaatcactgattgtgaatattaatttaaaaaaataagtaagaaaatgttt c.*2580
. . . . . . g.79592
taaatgtgctgcctctttaaaaggtctcctctttgtgcaaccaaaacccacctctctaga c.*2640
. . . . . . g.79652
atacagtttgtataactgaagctataatttcataccatgagtgctgctgttagcaataat c.*2700
. . . . . . g.79712
aatcatgcccggattttattaacaacagaagctgttgctcgtatgaaaaaacaaacatta c.*2760
. . . . . . g.79772
gttctaataaacatctgcattgagtcaaagctccctgtttgtttgtatgtcttttatgca c.*2820
. . . . . . g.79832
ctgatgattatagtgagttgctttcatttaccaacattttgttgtattcgtgtaggatca c.*2880
. . . . . . g.79892
ctgtaccatgaagggagagagactatgatgggaagattgttgtagatacaaaagcatgtc c.*2940
. . . . . . g.79952
ttaggtttttgggtcagttctgtttaaatacctgtcctattattcctgtaaattatcaaa c.*3000
. . . . . . g.80012
atatcccagaatgtcaatgtttctgcatccacattacaattattaaatgccactcattta c.*3060
. . . . . . g.80072
ttaaatttactattatcagtggcatttaataaatttgaatcatatgttcagtgtttggtt c.*3120
. . . . . . g.80132
tagaaaatatggtgccatgtctatgagtggcctgttctggattggagtacatgccttctt c.*3180
. . . . . . g.80192
tctgccttgagttaatcttactcaatggagaacaagaatcaaagaaacaccaccaccaag c.*3240
. . . . . . g.80252
aagcccttcaagctagagttgggcaagagtcagggaggggaatgtagaccactcatatga c.*3300
. . . . . . g.80312
cagaggtggaaaccaatcttggtctagaataagtctcaaaatcaaaagacttgaattcta c.*3360
. . . . . . g.80372
gtgcagcgtaggttgactcccttatttatttaattttcccatctctacaccgctagaata c.*3420
. . . . . . g.80432
acctctctcctgaggctgttgaatctgatgaattagcagataggaaagaacttagaaaat c.*3480
. . . . . . g.80492
tataagttcactcaaatgtaaaaggttatatgggaaataatcaccactaacatttttgag c.*3540
. . . . . . g.80552
tacttactatctgcttgttatacacattctctaatttaattttcacaagaaaattcatga c.*3600
. . . . . . g.80612
aaggactatacttatcccccttttacaggtgagcaacctggagtgcagtgaagtgtaaaa c.*3660
. . . . . . g.80672
tgtgggccgacttaggagcacaaataccccagcaacaatgagcactcttagtacacaggt c.*3720
. . . . . . g.80732
cttggtttctaaaatatcatcatccgataaaaggaacacaggctctttgaagaaatgact c.*3780
. . . . . . g.80792
gattccgggattggggcaagaaacacacaagctgagactggagcatcttgcagtcccaga c.*3840
. . . . . . g.80852
aagtgaagaaacgctgaggatatgtcaaagggacacaggagccaaatgaaagagcttcca c.*3900
. . . . . . g.80912
ctggccaaagctggaatgttgagcaacaaagcaacatagcattggataataacccaaagt c.*3960
. . g.80938
ataaaataaatattcatgagtacata c.*3986
(downstream sequence)
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