(used for variant description)
(last modified May 24, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_000542.3 in the SFTPB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering SFTPB transcript NM_000542.3.
(upstream sequence)
. . . . g.5040
tgtaaatgctcttctgactaatgcaaaccatgtgtccata c.-61
. . . | 02. . . g.5522
gaaccagaagatttttccaggggaaaag | agcccccacgccccgcccagctataaggggcc c.-1
. . . . . . g.5582
ATGCACCAAGCAGGGTACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAG c.60
M H Q A G Y P G C R G A M A E S H L L Q p.20
. . . . | 03 . . g.5952
TGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTG | CTGCCTGGACCACCTCA c.120
W L L L L L P T L C G P G T A | A W T T S p.40
. . . . . . g.6012
TCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAG c.180
S L A C A Q G P E F W C Q S L E Q A L Q p.60
. . . . . | 04 . g.6573
TGCAGAGCCCTAGGGCATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCC | GATGACCTA c.240
C R A L G H C L Q E V W G H V G A | D D L p.80
. . . . . . g.6633
TGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCAAGGAGGCCATTTTC c.300
C Q E C E D I V H I L N K M A K E A I F p.100
| 05 . . . . . . g.7056
CAG | GACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTC c.360
Q | D T M R K F L E Q E C N V L P L K L L p.120
. . . . . . g.7116
ATGCCCCAGTGCAACCAAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAG c.420
M P Q C N Q V L D D Y F P L V I D Y F Q p.140
| 06 . . . . . g.7998
AACCAGACT | GACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCAAATCCCGGCAGCCA c.480
N Q T | D S N G I C M H L G L C K S R Q P p.160
. . . . . . g.8058
GAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTG c.540
E P E Q E P G M S D P L P K P L R D P L p.180
. . . . . . g.8118
CCAGACCCTCTGCTGGACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGG c.600
P D P L L D K L V L P V L P G A L Q A R p.200
. | 07 . . . . g.8405
CCTGGGCCTCACACACAG | GATCTCTCCGAGCAGCAATTCCCCATTCCTCTCCCCTATTGC c.660
P G P H T Q | D L S E Q Q F P I P L P Y C p.220
. . . . | 08 . g.9906
TGGCTCTGCAGGGCTCTGATCAAGCGGATCCAAGCCATGATTCCCAAG | GGTGCGCTAGCT c.720
W L C R A L I K R I Q A M I P K | G A L A p.240
. . . . . . g.9966
GTGGCAGTGGCCCAGGTGTGCCGCGTGGTACCTCTGGTGGCGGGCGGCATCTGCCAGTGC c.780
V A V A Q V C R V V P L V A G G I C Q C p.260
. . . . . . g.10026
CTGGCTGAGCGCTACTCCGTCATCCTGCTCGACACGCTGCTGGGCCGCATGCTGCCCCAG c.840
L A E R Y S V I L L D T L L G R M L P Q p.280
. . . . . | 09 . g.10258
CTGGTCTGCCGCCTCGTCCTCCGGTGCTCCATGGATGACAGCGCTGGCCCAA | GGTCGCCG c.900
L V C R L V L R C S M D D S A G P R | S P p.300
. . . . . . g.10318
ACAGGAGAATGGCTGCCGCGAGACTCTGAGTGCCACCTCTGCATGTCCGTGACCACCCAG c.960
T G E W L P R D S E C H L C M S V T T Q p.320
. . . . . . g.10378
GCCGGGAACAGCAGCGAGCAGGCCATACCACAGGCAATGCTCCAGGCCTGTGTTGGCTCC c.1020
A G N S S E Q A I P Q A M L Q A C V G S p.340
. | 10 . . . . g.11674
TGGCTGGACAGGGAAAAG | TGCAAGCAATTTGTGGAGCAGCACACGCCCCAGCTGCTGACC c.1080
W L D R E K | C K Q F V E Q H T P Q L L T p.360
. . . | 11 . . g.12227
CTGGTGCCCAGGGGCTGGGATGCCCACACCACCTGCCAG | GCCCTCGGGGTGTGTGGGACC c.1140
L V P R G W D A H T T C Q | A L G V C G T p.380
. . . . g.12269
ATGTCCAGCCCTCTCCAGTGTATCCACAGCCCCGACCTTTGA c.1182
M S S P L Q C I H S P D L X p.393
. | 12 . . . . g.14100
tgagaactcagctgtccag | ctgcaaaggaaaagccaagtgagacgggctctgggaccatg c.*60
. . . . . . g.14160
gtgaccaggctcttcccctgctccctggccctcgccagctgccaggctgaaaagaagcct c.*120
. . . . . . g.14220
cagctcccacaccgccctcctcaccgcccttcctcggcagtcacttccactggtggacca c.*180
. . . . . . g.14280
cgggcccccagccctgtgtcggccttgtctgtctcagctcaaccacagtctgacaccaga c.*240
. . . . . . g.14340
gcccacttccatcctctctggtgtgaggcacagcgagggcagcatctggaggagctctgc c.*300
. . . . . . g.14400
agcctccacacctaccacgacctcccagggctgggctcaggaaaaaccagccactgcttt c.*360
. . . . . . g.14460
acaggacagggggttgaagctgagccccgcctcacacccacccccatgcactcaaagatt c.*420
. . . . . . g.14520
ggattttacagctacttgcaattcaaaattcagaagaataaaaaatgggaacatacagaa c.*480
. . . . . . g.14580
ctctaaaagatagacatcagaaattgttaagttaagctttttcaaaaaatcagcaattcc c.*540
. . . . . . g.14640
ccagcgtagtcaagggtggacactgcacgctctggcatgatgggatggcgaccgggcaag c.*600
. . . . . . g.14700
ctttcttcctcgagatgctctgctgcttgagagctattgctttgttaagatataaaaagg c.*660
. . . . . . g.14760
ggtttctttttgtctttctgtaaggtggacttccagcttttgattgaaagtcctagggtg c.*720
. . . . . . g.14820
attctatttctgctgtgatttatctgctgaaagctcagctggggttgtgcaagctaggga c.*780
. . . . . . g.14880
cccattcctgtgtaatacaatgtctgcaccaatgctaataaagtcctattctcttttatg c.*840
. . . . . . g.14940
agaaagaaaaagacaccgtcctttaaagtgctgcagtatggccagacgtggtggctcaca c.*900
. . . . . . g.15000
cctgcaatcccagcaccttaggaggccgaggcaggaggatccttgaggtcaggagttcga c.*960
. . . . . . g.15060
gaccagcctcgccaacatggtgaaaccccatttctactaaaaatacaaaaaattagccaa c.*1020
. . . . . . g.15120
gtgtggtggcatatgcctgtaatcccaactactcagaaggccgaggcaggagaattactt c.*1080
. . . . . . g.15180
gaacgcaggagaatcactgcagcccaggaggcagaggttgcagtgagccgagattgcacc c.*1140
. . . . . . g.15240
actgcactccagcctgggtgacagagcaagactccatctcagtaaataaataaataaata c.*1200
. . . . . . g.15300
aaaagcgctgcagtagctgtggcctcaccctgaagtcagcgggcccaggcctacctcact c.*1260
. . . . . . g.15360
ctctcccttggcagagaagcagacgtccatagctcctctccctcacaagcgctcccagcc c.*1320
. . . . . . g.15420
tgccctccagctgctgctctcccctcccagtctctactcactgggatgaggttaggtcat c.*1380
. . . . . . g.15480
gaggacaccaaaaacctaaaaataaacaaaaagccaaacaagccttagcttttcttaaag c.*1440
. . . . . . g.15540
actgaaatgcctggaagtgtccctttatttataaaataacttttgtcatatttcttatac c.*1500
. . . . . . g.15600
atgtttcttgtaagaaattcagaaactacagacaaagagagtggaaattacccactgtca c.*1560
. . . . . . g.15660
ggcctctgagcccaagctaagccatcatatcccctgtgccctgcacgtatacacccagat c.*1620
. . . . . . g.15720
ggcctgaagcaactgaagatccacaaaagaagtgaaaatagccagttcctgccttaactg c.*1680
. . . . . . g.15780
atgacattccaccattgtgatttgttcctgccccaccctaactgatcaattgaccttgtg c.*1740
. . . . . . g.15840
acaatacaccttccccacccttgagaaggtgctttgtaatattctccccacccaccccac c.*1800
. . . . . . g.15900
gcccgcacccccgcacccttaagaaggtattttgtaatattctctccgccattgagaatg c.*1860
. . . . . . g.15960
tgctttgtaagatccaccccctgcccacaaaaaattgctcctaactccaccgcctatccc c.*1920
. . . . . . g.16020
aaacctacaagaactaatgataatcccaccaccctttgctgactctttttggactcagcc c.*1980
. . . . . . g.16080
cacctgcacccaggtgattaaaaagctttattgttcacacaaagcctgtttggtagtctc c.*2040
. . . . . . g.16140
ttcacagggaagcatgtgacacccacaatcccacctagcccaggagagagctacggcagg c.*2100
. . . . . . g.16200
gtgtgtgttttgacactgagcttggggctttttccatcttctccccacagcctctggctc c.*2160
. . . . . . g.16260
cacacctccaccgttcaagcgccagaaagagctgtctatgcagcctgctcttgggcctgg c.*2220
. . . . . . g.16320
ggatgagacacacaattcattggctcctggattttaagtagacatttgtaaatctatagc c.*2280
. . . . . . g.16380
taactactgtccttaaagccattgtttccattacaaaatccaactctctgagagaaaagg c.*2340
. . . . g.16425
gtgttttaaatttaaaaaaataaaaacaaaaaagtttgattgaga c.*2385
(downstream sequence)
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