(used for variant description)
(last modified July 31, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015474.3 in the SAMHD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017059.1, covering SAMHD1 transcript NM_015474.3.
(upstream sequence)
. . g.5020
attgcgcctgcgcagggagc c.-181
. . . . . . g.5080
ccaaggcaagagccgctaggctgccctgcccgaagggctcaactgtcagtgagcctgcgc c.-121
. . . . . . g.5140
aggaggccaataggctgccaatactccttggactccccgccagggccctgctgtcagtgc c.-61
. . . . . . g.5200
gcctgcgcgcgggtccggcgccgaggttcttgactgctgtgccggacgccaggtgtagcc c.-1
. . . . . . g.5260
ATGCAGCGAGCCGATTCCGAGCAGCCCTCCAAGCGTCCCCGTTGCGATGACAGCCCGAGA c.60
M Q R A D S E Q P S K R P R C D D S P R p.20
. . . . . . g.5320
ACCCCCTCAAACACCCCTTCCGCAGAGGCAGACTGGTCCCCGGGCCTGGAACTCCATCCC c.120
T P S N T P S A E A D W S P G L E L H P p.40
. . . . . . g.5380
GACTACAAGACATGGGGTCCGGAGCAGGTGTGCTCCTTCCTCAGGCGCGGTGGCTTTGAA c.180
D Y K T W G P E Q V C S F L R R G G F E p.60
. . | 02 . . . g.10071
GAGCCGGTGCTGCTGAAGAACATCCGAG | AAAATGAAATCACAGGCGCATTACTGCCTTGT c.240
E P V L L K N I R E | N E I T G A L L P C p.80
. . . | 03 . . . g.15757
CTTGATGAGTCTCGTTTTGAAAATCTTGGAGTAAG | TTCCTTGGGGGAGAGGAAGAAGCTG c.300
L D E S R F E N L G V S | S L G E R K K L p.100
. . . . | 04 . g.21666
CTTAGTTATATCCAGCGATTGGTTCAAATCCACGTTGATACAATGAAG | GTAATTAATGAT c.360
L S Y I Q R L V Q I H V D T M K | V I N D p.120
. . . . . . g.21726
CCTATCCATGGCCACATTGAGCTCCACCCTCTCCTCGTCCGAATCATTGATACACCTCAA c.420
P I H G H I E L H P L L V R I I D T P Q p.140
. . . . . . g.21786
TTTCAACGTCTTCGATACATCAAACAGCTGGGAGGTGGTTACTATGTTTTTCCAGGAGCT c.480
F Q R L R Y I K Q L G G G Y Y V F P G A p.160
. . | 05 . . . g.25999
TCACACAATCGATTTGAGCATAGTCTAGG | GGTGGGGTATCTAGCAGGATGTCTAGTTCAC c.540
S H N R F E H S L G | V G Y L A G C L V H p.180
. . . . . . g.26059
GCACTGGGTGAAAAACAACCAGAGCTGCAGATAAGTGAACGAGATGTTCTCTGTGTTCAG c.600
A L G E K Q P E L Q I S E R D V L C V Q p.200
. . | 06 . . . . g.29626
ATTGCTGGACTTTGTCATGATCTCG | GTCATGGGCCATTTTCTCACATGTTTGATGGACGA c.660
I A G L C H D L G | H G P F S H M F D G R p.220
. . . | 07 . . . g.37348
TTTATTCCACTTGCTCGCCCGGAGGTGAAATGGACG | CATGAACAAGGCTCAGTTATGATG c.720
F I P L A R P E V K W T | H E Q G S V M M p.240
. . . . . . g.37408
TTTGAGCACCTTATTAATTCTAATGGAATTAAGCCTGTCATGGAACAATATGGTCTCATC c.780
F E H L I N S N G I K P V M E Q Y G L I p.260
. . . . . . g.37468
CCTGAAGAAGATATTTGCTTTATAAAGGAACAAATTGTAGGACCACTTGAATCACCTGTC c.840
P E E D I C F I K E Q I V G P L E S P V p.280
. | 08 . . . . . g.39842
GAAGATTCATTG | TGGCCATATAAAGGGCGTCCTGAAAACAAAAGCTTCCTTTATGAGATA c.900
E D S L | W P Y K G R P E N K S F L Y E I p.300
. . . . . | 09 . g.40020
GTATCTAATAAAAGAAATGGCATTGATGTGGACAAATGGGATTATTTTGCCAG | GGACTGC c.960
V S N K R N G I D V D K W D Y F A R | D C p.320
. . . . . . g.40080
CATCATCTTGGAATCCAAAATAATTTTGATTACAAGCGCTTTATTAAGTTTGCCCGTGTC c.1020
H H L G I Q N N F D Y K R F I K F A R V p.340
. . . . | 10 . . g.44309
TGTGAAGTAGACAATGAGTTGCGTATTTGTGCTAGAGATAAG | GAAGTTGGAAATCTGTAT c.1080
C E V D N E L R I C A R D K | E V G N L Y p.360
. . . . . . g.44369
GACATGTTCCACACTCGCAACTCTTTACACCGTAGAGCTTATCAACACAAAGTTGGCAAC c.1140
D M F H T R N S L H R R A Y Q H K V G N p.380
. | 11 . . . . . g.45556
ATTATTGATACAAT | GATTACAGATGCTTTCCTCAAAGCAGATGACTACATAGAGATTACA c.1200
I I D T M | I T D A F L K A D D Y I E I T p.400
. . . . . . g.45616
GGTGCTGGAGGAAAAAAGTATCGCATTTCTACAGCAATTGACGACATGGAAGCCTATACT c.1260
G A G G K K Y R I S T A I D D M E A Y T p.420
. | 12 . . . . . g.51390
AAGCTGACAG | ATAACATTTTTCTGGAGATTTTATACTCTACTGATCCCAAATTGAAAGAC c.1320
K L T D | N I F L E I L Y S T D P K L K D p.440
. . . . . . g.51450
GCACGAGAGATTTTAAAACAAATTGAATACCGTAATCTATTCAAGTATGTGGGTGAGACG c.1380
A R E I L K Q I E Y R N L F K Y V G E T p.460
. . . | 13 . . . g.52624
CAGCCAACAGGACAAATAAAGATTAAAAGG | GAGGACTATGAATCTCTTCCAAAAGAGGTT c.1440
Q P T G Q I K I K R | E D Y E S L P K E V p.480
. . . . . . g.52684
GCCAGTGCTAAACCCAAAGTATTGCTAGACGTGAAACTGAAGGCTGAAGATTTTATAGTG c.1500
A S A K P K V L L D V K L K A E D F I V p.500
| 14 . . . . . . g.58356
GAT | GTTATCAACATGGATTATGGAATGCAAGAAAAGAATCCAATTGATCATGTTAGCTTC c.1560
D | V I N M D Y G M Q E K N P I D H V S F p.520
. . . . | 15 . g.58896
TATTGTAAGACTGCCCCCAACAGAGCAATCAGGATTACTAAAAACCAG | GTTTCACAACTT c.1620
Y C K T A P N R A I R I T K N Q | V S Q L p.540
. . . . . . g.58956
CTGCCAGAGAAATTTGCAGAGCAGCTGATTCGAGTATATTGTAAGAAGGTGGACAGAAAG c.1680
L P E K F A E Q L I R V Y C K K V D R K p.560
. . . . . . g.59016
AGTTTGTATGCCGCAAGACAATATTTTGTTCAGTGGTGTGCAGACAGAAATTTCACCAAG c.1740
S L Y A A R Q Y F V Q W C A D R N F T K p.580
| 16 . . . . . . g.63831
CCGCAG | GATGGCGATGTTATAGCCCCACTCATAACACCTCAAAAAAAGGAATGGAACGAC c.1800
P Q | D G D V I A P L I T P Q K K E W N D p.600
. . . . . . g.63891
AGTACTTCAGTCCAAAATCCAACTCGCCTCCGAGAAGCATCCAAAAGCAGAGTCCAGCTT c.1860
S T S V Q N P T R L R E A S K S R V Q L p.620
. . g.63912
TTTAAAGATGACCCAATGTGA c.1881
F K D D P M X p.626
. . . . . . g.63972
atgtctgtagtcagttgtttacaaactccctctcctgcacaattcatttagaggcttcaa c.*60
. . . . . . g.64032
tcatagaattctgcaaattaatgacaactcatgctttaattttgtattttgaatgtacac c.*120
. . . . . . g.64092
gcatgctgaagctaagtaacttttaatcaaagaaataagatggtattaggcaaatcttac c.*180
. . . . . . g.64152
tatactatgaaaagcattaccttgcctatttttaatattattaaagcctttctccttcag c.*240
. . . . . . g.64212
tagtctattttcttagaataacaactcttttatctattctgaactctattttttttcttt c.*300
. . . . . . g.64272
tttaagagacaaggttttgctctgttgcccagcttggactcgaactttcctgggctcaag c.*360
. . . . . . g.64332
cgaccctcctgcctcagccccccaagtagctgggactaaagtcatgtgccaccacaccca c.*420
. . . . . . g.64392
gcttactctgaacttttatgacagatgattgttttttgtttttaatgtagaaatgagaca c.*480
. . . . . . g.64452
agggtacaaattggaactagaaattgacattgtcattgacaaacatggctaaaaacaaaa c.*540
. . . . . . g.64512
catcaaatcctgcccccgtgaagagttccctgtcacctcaagtttgaggatagtcctcta c.*600
. . . . . . g.64572
agagtgacctaagcataagtgaaagacacctcccctcacccttctagccccctacaaggt c.*660
. . . . . . g.64632
gccaggttggggtaaagagttggagatgatggccaggagtggcctccaacacgctggtga c.*720
. . . . . . g.64692
gaggcctgattaggttttggggaagatctgagagctctggcctcttcgtgagtggaacat c.*780
. . . . . . g.64752
aaagccgcctcttgttgggagatcctaccccagtgacagaggaatcccccaaactaggct c.*840
. . . . . . g.64812
gtgccctggctccgtggcggctccagacccgggtagtgcctttgtcccctgaatactcac c.*900
. . . . . . g.64872
tcccccggtccagagggccttcccactgcccagcctggagaaggcctcccctgacctgct c.*960
. . . . . . g.64932
ctctcagtatcctggagagctggccagaggccatcacaggcatcatcctcagagctcctc c.*1020
. . . . . . g.64992
agacctgggactttgtttttgctggttcagtgcattttgtgtatttaagagcaaacacta c.*1080
. . g.65020
gccaggcgtggcggcgtgtgcctgtagt c.*1108
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 19a
©2004-2017 Leiden University Medical Center