(used for variant description)
(last modified February 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_005631.4 in the SMO gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023340.1, covering SMO transcript NM_005631.4.
(upstream sequence)
. . . . g.5040
gggctgaagacaacttggattgcgaggctagggcttgggg c.-241
. . . . . . g.5100
agtcgtgcatcccgttccgggcctccgcagcccaacatgggccccgggttccaaagtttg c.-181
. . . . . . g.5160
cgaagttgggcgccgaggggccggggcgcgcggagcgtccgggggggcccgggcccggat c.-121
. . . . . . g.5220
tctctgggcgcacaggtcgcctgagccgcctccgcggccgccgaggtcgtgcgtgtggcc c.-61
. . . . . . g.5280
ggggggctccgaggagcaggcgggggcgccggggcttttgctgagttggcggggttggcc c.-1
. . . . . . g.5340
ATGGCCGCTGCCCGCCCAGCGCGGGGGCCGGAGCTCCCGCTCCTGGGGCTGCTGCTGCTG c.60
M A A A R P A R G P E L P L L G L L L L p.20
. . . . . . g.5400
CTGCTGCTGGGGGACCCGGGCCGGGGGGCGGCCTCGAGCGGGAACGCGACCGGGCCTGGG c.120
L L L G D P G R G A A S S G N A T G P G p.40
. . . . . . g.5460
CCTCGGAGCGCGGGCGGGAGCGCGAGGAGGAGCGCGGCGGTGACTGGCCCTCCGCCGCCG c.180
P R S A G G S A R R S A A V T G P P P P p.60
. . . . . . g.5520
CTGAGCCACTGCGGCCGGGCTGCCCCCTGCGAGCCGCTGCGCTACAACGTGTGCCTGGGC c.240
L S H C G R A A P C E P L R Y N V C L G p.80
. . . . . . g.5580
TCGGTGCTGCCCTACGGGGCCACCTCCACACTGCTGGCCGGAGACTCGGACTCCCAGGAG c.300
S V L P Y G A T S T L L A G D S D S Q E p.100
. . . | 02 . . . g.19541
GAAGCGCACGGCAAGCTCGTGCTCTGGTCGG | GCCTCCGGAATGCCCCCCGCTGCTGGGCA c.360
E A H G K L V L W S G | L R N A P R C W A p.120
. . . . . . g.19601
GTGATCCAGCCCCTGCTGTGTGCCGTATACATGCCCAAGTGTGAGAATGACCGGGTGGAG c.420
V I Q P L L C A V Y M P K C E N D R V E p.140
. . . . . . g.19661
CTGCCCAGCCGTACCCTCTGCCAGGCCACCCGAGGCCCCTGTGCCATCGTGGAGAGGGAG c.480
L P S R T L C Q A T R G P C A I V E R E p.160
. . . . . | 03. g.21334
CGGGGCTGGCCTGACTTCCTGCGCTGCACTCCTGACCGCTTCCCTGAAGGCTGCACG | AAT c.540
R G W P D F L R C T P D R F P E G C T | N p.180
. . . . . . g.21394
GAGGTGCAGAACATCAAGTTCAACAGTTCAGGCCAGTGCGAAGTGCCCTTGGTTCGGACA c.600
E V Q N I K F N S S G Q C E V P L V R T p.200
. . . . . . g.21454
GACAACCCCAAGAGCTGGTACGAGGACGTGGAGGGCTGCGGCATCCAGTGCCAGAACCCG c.660
D N P K S W Y E D V E G C G I Q C Q N P p.220
. . . . . . g.21514
CTCTTCACAGAGGCTGAGCACCAGGACATGCACAGCTACATCGCGGCCTTCGGGGCCGTC c.720
L F T E A E H Q D M H S Y I A A F G A V p.240
. . | 04. . . . g.21771
ACGGGCCTCTGCACGCTCTTCACCCTG | GCCACATTCGTGGCTGACTGGCGGAACTCGAAT c.780
T G L C T L F T L | A T F V A D W R N S N p.260
. . . . . . g.21831
CGCTACCCTGCTGTTATTCTCTTCTACGTCAATGCGTGCTTCTTTGTGGGCAGCATTGGC c.840
R Y P A V I L F Y V N A C F F V G S I G p.280
. . . . . . g.21891
TGGCTGGCCCAGTTCATGGATGGTGCCCGCCGAGAGATCGTCTGCCGTGCAGATGGCACC c.900
W L A Q F M D G A R R E I V C R A D G T p.300
. . | 05 . . . . g.22318
ATGAGGCTTGGGGAGCCCAC | CTCCAATGAGACTCTGTCCTGCGTCATCATCTTTGTCATC c.960
M R L G E P T | S N E T L S C V I I F V I p.320
. . . . . . g.22378
GTGTACTACGCCCTGATGGCTGGTGTGGTTTGGTTTGTGGTCCTCACCTATGCCTGGCAC c.1020
V Y Y A L M A G V V W F V V L T Y A W H p.340
. . . . . . g.22438
ACTTCCTTCAAAGCCCTGGGCACCACCTACCAGCCTCTCTCGGGCAAGACCTCCTACTTC c.1080
T S F K A L G T T Y Q P L S G K T S Y F p.360
. . . . . . g.22498
CACCTGCTCACCTGGTCACTCCCCTTTGTCCTCACTGTGGCAATCCTTGCTGTGGCGCAG c.1140
H L L T W S L P F V L T V A I L A V A Q p.380
| 06 . . . . . . g.22652
| GTGGATGGGGACTCTGTGAGTGGGATTTGTTTTGTGGGCTACAAGAACTACCGATACCGT c.1200
| V D G D S V S G I C F V G Y K N Y R Y R p.400
. . . . . . g.22712
GCGGGCTTCGTGCTGGCCCCAATCGGCCTGGTGCTCATCGTGGGAGGCTACTTCCTCATC c.1260
A G F V L A P I G L V L I V G G Y F L I p.420
| 07 . . . . . . g.24943
CGAG | GAGTCATGACTCTGTTCTCCATCAAGAGCAACCACCCCGGGCTGCTGAGTGAGAAG c.1320
R G | V M T L F S I K S N H P G L L S E K p.440
. . . | 08. . . g.25440
GCTGCCAGCAAGATCAACGAGACCATGCTGCGCCTGG | GCATTTTTGGCTTCCTGGCCTTT c.1380
A A S K I N E T M L R L G | I F G F L A F p.460
. . . . . . g.25500
GGCTTTGTGCTCATTACCTTCAGCTGCCACTTCTACGACTTCTTCAACCAGGCTGAGTGG c.1440
G F V L I T F S C H F Y D F F N Q A E W p.480
. . | 09 . . . . g.26525
GAGCGCAGCTTCCGGGACTATGTGCT | ATGTCAGGCCAATGTGACCATCGGGCTGCCCACC c.1500
E R S F R D Y V L | C Q A N V T I G L P T p.500
. . . . . . g.26585
AAGCAGCCCATCCCTGACTGTGAGATCAAGAATCGCCCGAGCCTTCTGGTGGAGAAGATC c.1560
K Q P I P D C E I K N R P S L L V E K I p.520
. . . . . . g.26645
AACCTGTTTGCCATGTTTGGAACTGGCATCGCCATGAGCACCTGGGTCTGGACCAAGGCC c.1620
N L F A M F G T G I A M S T W V W T K A p.540
. . . | 10 . . . g.27121
ACGCTGCTCATCTGGAGGCGTACCTGGTGCAG | GTTGACTGGGCAGAGTGACGATGAGCCA c.1680
T L L I W R R T W C R | L T G Q S D D E P p.560
. . . . . . g.27181
AAGCGGATCAAGAAGAGCAAGATGATTGCCAAGGCCTTCTCTAAGCGGCACGAGCTCCTG c.1740
K R I K K S K M I A K A F S K R H E L L p.580
. . . . . . g.27241
CAGAACCCAGGCCAGGAGCTGTCCTTCAGCATGCACACTGTGTCCCACGACGGGCCCGTG c.1800
Q N P G Q E L S F S M H T V S H D G P V p.600
| 11 . . . . . . g.27823
G | CGGGCTTGGCCTTTGACCTCAATGAGCCCTCAGCTGATGTCTCCTCTGCCTGGGCCCAG c.1860
A | G L A F D L N E P S A D V S S A W A Q p.620
. . . . . . g.27883
CATGTCACCAAGATGGTGGCTCGGAGAGGAGCCATACTGCCCCAGGATATTTCTGTCACC c.1920
H V T K M V A R R G A I L P Q D I S V T p.640
. | 12 . . . . . g.28196
CCTGTGGCAACTCCAG | TGCCCCCAGAGGAACAAGCCAACCTGTGGCTGGTTGAGGCAGAG c.1980
P V A T P V | P P E E Q A N L W L V E A E p.660
. . . . . . g.28256
ATCTCCCCAGAGCTGCAGAAGCGCCTGGGCCGGAAGAAGAAGAGGAGGAAGAGGAAGAAG c.2040
I S P E L Q K R L G R K K K R R K R K K p.680
. . . . . . g.28316
GAGGTGTGCCCGCTGGCGCCGCCCCCTGAGCTTCACCCCCCTGCCCCTGCCCCCAGTACC c.2100
E V C P L A P P P E L H P P A P A P S T p.700
. . . . . . g.28376
ATTCCTCGACTGCCTCAGCTGCCCCGGCAGAAATGCCTGGTGGCTGCAGGTGCCTGGGGA c.2160
I P R L P Q L P R Q K C L V A A G A W G p.720
. . . . . . g.28436
GCTGGGGACTCTTGCCGACAGGGAGCGTGGACCCTGGTCTCCAACCCATTCTGCCCAGAG c.2220
A G D S C R Q G A W T L V S N P F C P E p.740
. . . . . . g.28496
CCCAGTCCCCCTCAGGATCCATTTCTGCCCAGTGCACCGGCCCCCGTGGCATGGGCTCAT c.2280
P S P P Q D P F L P S A P A P V A W A H p.760
. . . . . . g.28556
GGCCGCCGACAGGGCCTGGGGCCTATTCACTCCCGCACCAACCTGATGGACACAGAACTC c.2340
G R R Q G L G P I H S R T N L M D T E L p.780
. . g.28580
ATGGATGCAGACTCGGACTTCTGA c.2364
M D A D S D F X p.787
. . . . . . g.28640
gcctgcagagcaggacctgggacaggaaagagaggaaccaataccttcaaggctcttctt c.*60
. . . . . . g.28700
cctcaccgagcatgcttccctaggatcccgtcttccagagaacctgtgggctgactgccc c.*120
. . . . . . g.28760
tccgaagagagttctggatgtctggctcaaagcagcaggactgtgggaaagagcctaaca c.*180
. . . . . . g.28820
tctccatggggaggcctcaccccagggacagggccctggagctcagggtccttgtttctg c.*240
. . . . . . g.28880
ccctgccagctgcagcctggttggcagcatctgctccatcggggcagggggtatgcagag c.*300
. . . . . . g.28940
cttgtggtggggcaggaacggtggaggcagaggtgacagttcccagagtgggctttggtg c.*360
. . . . . . g.29000
gccagggaggcagcctagcctatgtctggcagatgagggctggctgccgttttctgggct c.*420
. . . . . . g.29060
gatgggtgccctttcctggcagtctcagtccaaaagtgttgactgtgtcattagtccttt c.*480
. . . . . . g.29120
gtctaagtagggccagggcaccgtattcctctcccaggtgtttgtggggctggaaggacc c.*540
. . . . . . g.29180
tgctcccacaggggccatgtcctctcttaataggtggcactaccccaaacccatcttttg c.*600
. . . . . . g.29240
ttctcctatatcctccttctcctgttccatttcagttcagtttcagcggtgccaacctct c.*660
. . . . . . g.29300
ttgcgtttcctttttgttgatgaggacccagagctgctgcacacactcacctctaacccc c.*720
. . . . . . g.29360
ctcccctcgctgctgggccccatctccacaggagagactggttcagctctagggcctcag c.*780
. . . . . . g.29420
tctggagtgggataggagcagtgagtgacaaagcctctgaaagatgcatcatctcttcct c.*840
. . . . . . g.29480
cacacccatttagtgggggatgggtcctctagacttgaggggctaccctgggaagctgcc c.*900
. . . . . . g.29540
gtagcttcagccaggcaagaaagcttccttcaacctgcatagccggtgggtgaggagatt c.*960
. . . . . . g.29600
cccaccttccatagcctccaaacatgttcccaaggccccactttcaagaatcagacagca c.*1020
. . . . . . g.29660
ggaagccatagatgctggctgggttccaggttatggggagaagaaatacagtcaataaaa c.*1080
. g.29674
ggtttttgtataaa c.*1094
(downstream sequence)
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