(used for variant description)
(last modified December 19, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_017951.4 in the SMPD4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering SMPD4 transcript NM_017951.4.
(upstream sequence)
. . . g.6029
ctaaggaccactccctcccccgcactcctgcctcgc c.-121
. . . . . . g.6089
catttctcttccccgcccggccggccttcgctttgcgcacgcgccttttgaggtaacggc c.-61
. . . . . . g.6149
ccaaagaggtggaagcgcttttcccgcccggccgcggggcgtggctctgcgcgcagcttg c.-1
. . . . . . g.6209
ATGACGACTTTCGGCGCCGTGGCGGAATGGCGGCTTCCATCTCTGAGGCGAGCGACGCTA c.60
M T T F G A V A E W R L P S L R R A T L p.20
. | 02 . . . . . g.11161
TGGATCCCACAG | TGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATG c.120
W I P Q | W F A K K A I F N S P L E A A M p.40
. . . | 03 . . . g.12774
GCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTG | GCTAGCCTGAAAGCTGACTCTATA c.180
A F P H L Q Q P S F L L | A S L K A D S I p.60
. . . . . . g.12834
AATAAGCCCTTTGCACAGCAGTGCCAAGACTTGGTTAAAGTCATTGAGGACTTTCCAGCA c.240
N K P F A Q Q C Q D L V K V I E D F P A p.80
| 04 . . . . . . g.14151
AAG | GAGCTGCACACCATCTTCCCATGGCTGGTAGAAAGCATTTTTGGCAGCCTAGATGGT c.300
K | E L H T I F P W L V E S I F G S L D G p.100
. . . . . . g.14211
GTCCTCGTTGGCTGGAACCTCCGCTGCTTACAGGGGCGCGTGAATCCTGTGGAGTACAGC c.360
V L V G W N L R C L Q G R V N P V E Y S p.120
. . | 05 . . . . g.14430
ATCGTGATGGAATTTCTCGACCCTGG | TGGCCCAATGATGAAGTTGGTTTATAAGCTTCAA c.420
I V M E F L D P G | G P M M K L V Y K L Q p.140
. . . . | 06 . . g.14873
GCTGAAGACTATAAGTTCGACTTTCCTGTCTCCTACTTGCCT | GGTCCTGTGAAGGCGTCC c.480
A E D Y K F D F P V S Y L P | G P V K A S p.160
. . . . . . g.14933
ATCCAGGAGTGCATCCTCCCTGACAGTCCTCTGTACCACAACAAGGTCCAGTTCACCCCT c.540
I Q E C I L P D S P L Y H N K V Q F T P p.180
. . . | 07 . . . g.15102
ACTGGGGGCCTTGGTCTGAACTTGGCCCTGA | ATCCGTTCGAGTATTACATATTCTTCTTT c.600
T G G L G L N L A L N | P F E Y Y I F F F p.200
. . | 08 . . . . g.15286
GCCTTGAGCCTCATCACTCAGAAG | CCACTTCCTGTGTCCCTCCACGTCCGTACTTCAGAC c.660
A L S L I T Q K | P L P V S L H V R T S D p.220
. . . . . . g.15346
TGTGCCTATTTCATCCTGGTGGACAGGTACCTGTCATGGTTCCTGCCCACCGAAGGCAGT c.720
C A Y F I L V D R Y L S W F L P T E G S p.240
. . . . . | 09 . g.20164
GTGCCCCCACCACTCTCCTCCAGCCCAGGGGGGACCAGCCCCTCACCACCTCCCAG | GACA c.780
V P P P L S S S P G G T S P S P P P R | T p.260
. . . . . . g.20224
CCAGCCATACCCTTTGCTTCCTATGGCCTCCACCACACTAGCCTCCTAAAGCGACACATC c.840
P A I P F A S Y G L H H T S L L K R H I p.280
. . . . . . g.20284
TCTCATCAGACGTCTGTGAATGCAGACCCCGCCTCCCACGAGATCTGGAGGTCAGAAACT c.900
S H Q T S V N A D P A S H E I W R S E T p.300
| 10 . . . . . g.23356
CTGCTCCAG | GTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAA c.960
L L Q | V F V E M W L H H Y S L E M Y Q K p.320
. . | 11 . . . . g.26517
ATGCAGTCCCCTCATGCCAAG | CTGGAGGTTCTGCACTACCGACTCAGTGTCTCCAGCGCC c.1020
M Q S P H A K | L E V L H Y R L S V S S A p.340
. . . . | 12 . g.30366
CTCTACAGCCCCGCCCAACCCAGCCTCCAGGCCCTCCACGCCTACCAA | GAGTCGTTCACG c.1080
L Y S P A Q P S L Q A L H A Y Q | E S F T p.360
. . . . . . g.30426
CCTACTGAGGAGCATGTGTTGGTGGTGCGCCTGCTGCTGAAGCACCTGCACGCCTTTGCC c.1140
P T E E H V L V V R L L L K H L H A F A p.380
. . . . . . g.30486
AACAGCCTGAAGCCAGAGCAGGCCTCACCCTCCGCCCACTCCCACGCCACCAGCCCCCTG c.1200
N S L K P E Q A S P S A H S H A T S P L p.400
. | 13 . . . . . g.31121
GAGGAGTTCAAACG | GGCTGCTGTCCCGAGGTTCGTCCAGCAGAAACTCTACCTCTTCTTG c.1260
E E F K R | A A V P R F V Q Q K L Y L F L p.420
. . . . | 14 . . g.31630
CAGCATTGCTTTGGCCACTGGCCCCTGGACGCATCGTTCAGAGCT | GTCCTGGAGATGTGG c.1320
Q H C F G H W P L D A S F R A | V L E M W p.440
. . . . . . g.31690
CTGAGCTACCTGCAGCCGTGGCGGTACGCGCCTGACAAGCAGGCTCCGGGCAGCGACTCC c.1380
L S Y L Q P W R Y A P D K Q A P G S D S p.460
. . | 15 . . . . g.32525
CAGCCCCGGTGTGTGTCGGAGAAATG | GGCACCCTTTGTCCAGGAGAACCTGCTGATGTAC c.1440
Q P R C V S E K W | A P F V Q E N L L M Y p.480
. . . . . . g.32585
ACCAAGTTGTTTGTGGGCTTTCTGAACCGCGCGCTCCGCACAGACCTGGTCAGCCCCAAG c.1500
T K L F V G F L N R A L R T D L V S P K p.500
. . . . . . g.32645
CACGCGCTCATGGTGTTCCGAGTGGCCAAAGTCTTTGCCCAGCCCAACCTGGCTGAGATG c.1560
H A L M V F R V A K V F A Q P N L A E M p.520
. | 16 . . . . . g.33318
ATTCAGAAAG | GTGAGCAGCTATTCCTGGAGCCAGAGCTGGTCATCCCCCACCGCCAGCAC c.1620
I Q K G | E Q L F L E P E L V I P H R Q H p.540
. . . . . . g.33378
CGACTCTTCACGGCCCCCACATTCACTGGGAGCTTCCTGTCACCCTGGCCACCAGCGGTC c.1680
R L F T A P T F T G S F L S P W P P A V p.560
. . . . . . g.33438
ACTGATGCCTCCTTCAAGGTGAAGAGCCACGTCTACAGCCTGGAGGGCCAGGACTGCAAG c.1740
T D A S F K V K S H V Y S L E G Q D C K p.580
. . . | 17 . . . g.33839
TACACCCCGATGTTTGGGCCCGAGGCCCGCACCCTG | GTCCTGCGCCTCGCTCAGCTCATC c.1800
Y T P M F G P E A R T L | V L R L A Q L I p.600
. . . . . . g.33899
ACACAGGCCAAACACACAGCCAAGTCCATCTCCGACCAGTGTGCGGAGAGCCCGGCTGGC c.1860
T Q A K H T A K S I S D Q C A E S P A G p.620
. . . . . . g.33959
CACTCCTTCCTCTCATGGCTGGGCTTTAGCTCCATGGACACCAATGGCTCCTACACAGCC c.1920
H S F L S W L G F S S M D T N G S Y T A p.640
. . . . . . g.34019
AACGACCTGGACGAGATGGGGCAAGACAGTGTCCGGAAGACAGATGAATACCTGGAGAAG c.1980
N D L D E M G Q D S V R K T D E Y L E K p.660
. . . | 18 . . . g.34330
GCCCTGGAGTACCTGCGCCAGATATTCCGG | CTCAGCGAAGCGCAGCTCAGGCAGTTCACA c.2040
A L E Y L R Q I F R | L S E A Q L R Q F T p.680
. . . . . . g.34390
CTCGCCTTGGGCACCACCCAGGATGAGAATGGAAAAAAGCAACTCCCCGACTGCATCGTG c.2100
L A L G T T Q D E N G K K Q L P D C I V p.700
. . . . | 19 . . g.34597
GGTGAGGACGGACTCATCCTTACGCCCCTGGGGCGGTACCAG | ATCATCAATGGGCTGCGA c.2160
G E D G L I L T P L G R Y Q | I I N G L R p.720
. . . . . . g.34657
AGGTTTGAAATTGAGTACCAGGGGGACCCGGAGCTGCAGCCCATCCGGAGCTATGAGATC c.2220
R F E I E Y Q G D P E L Q P I R S Y E I p.740
. . . . . | 20 . g.34875
GCCAGCTTGGTCCGCACACTCTTTAGGCTGTCGTCTGCCATCAACCACAGA | TTTGCAGGA c.2280
A S L V R T L F R L S S A I N H R | F A G p.760
. . . . . . g.34935
CAGATGGCGGCTCTGTGTTCCCGGGATGACTTCCTCGGCAGCTTCTGTCGCTACCACCTC c.2340
Q M A A L C S R D D F L G S F C R Y H L p.780
. . . . . . g.34995
ACAGAACCTGGGCTGGCCAGCAGGCACCTGCTGAGCCCTGTGGGGCGGAGGCAGGTGGCC c.2400
T E P G L A S R H L L S P V G R R Q V A p.800
. . . . . . g.35055
GGCCACACCCGCGGCCCCAGGCTCAGCCTGCGCTTCCTGGGCAGTTACCGGACGCTGGTC c.2460
G H T R G P R L S L R F L G S Y R T L V p.820
. . . . . . g.35115
TCGCTGCTGCTGGCCTTCTTCGTGGCCTCTCTGTTCTGCGTCGGGCCCCTCCCATGCACG c.2520
S L L L A F F V A S L F C V G P L P C T p.840
. . . . . . g.35175
CTGCTGCTCACCCTGGGCTATGTCCTCTACGCCTCTGCCATGACACTGCTGACCGAGCGG c.2580
L L L T L G Y V L Y A S A M T L L T E R p.860
. . g.35196
GGGAAGCTGCACCAGCCCTGA c.2601
G K L H Q P X p.866
. . . . . . g.35256
aggtgtcagctgccttcagagcaggctggagggatttgccacacagccccacccttgggc c.*60
. . . . . . g.35316
tgagaggacctgggaagcccctccaggagggaacacggtcatcctcgggcttctggagcg c.*120
. . . . . . g.35376
gggttcctgcagccgcagaggcatctggaggaaacgcaaccaagaaaggaaggcaggtgg c.*180
. . . . . . g.35436
gccccagcaaaggagtagctgccagggctcaacagctacgctctgtgacagcgcagagct c.*240
. . . . . . g.35496
cagcggcggcctttccctccctccgccaaggactcacggccaagccagctctcggggcct c.*300
. . . . . . g.35556
tttttccactgcccatttggctactctgctgcaccaagcttgggagccagcctgccaaca c.*360
. . . . . . g.35616
gccacctgggcctggcctccccactggctggccttgaggttggcagagtgggttgtggcg c.*420
. . . . . . g.35676
cttcctctctctgtgtgggaccaggacagtggcttaagtctccactccaggaaagaatca c.*480
. . . . . . g.35736
aagtttctagagttgtgagaaaaccagagagtggctgtcctgattcttcactgtgagggg c.*540
. . . . . . g.35796
cgttcttcatgttctcccagctgttccaagactgggccgtagaattccatgtttcaggag c.*600
. . . . . . g.35856
cctaagaccctcccagagcccaggggcttcaccgcagaccccaagccattgagcacatca c.*660
. . . . . . g.35916
cccaaagcagtggccaacatcgcggacccctgtgccttgtcacagatgggtgctggtcct c.*720
. . . . . . g.35976
caggcgttggggacactgctgggtcgatggggtcggattctgccagtttctgctctgcag c.*780
. . . . . . g.36036
ccaaagatggtcagaagcattgtcacttcagtaacatcaagtgctcaaagacatggcaac c.*840
. . . . . . g.36096
cgttcagtggtacttaagtattcaaaatatacaactacagattctctgacagaaaccagc c.*900
. . . . . . g.36156
acggggtcttcaccttcattcaccccacaggcgacatgcgagggagaacagcatctcagt c.*960
. . . . . . g.36216
ggtgatttccaaaccaagcctttgttttcggtgtggggttttgggggtttgctttaatgt c.*1020
. . . . . . g.36276
ttttgaaattgtaaatgttgggctttgtattttgatgtaaactgagcataatggcatttt c.*1080
. . . . . . g.36336
agggcctgtgaccaaaaatgaagcttgtaacgaccatggatctgaataaacatgtccttg c.*1140
. . g.36359
cttctgagtcttctggcacctgg c.*1163
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center