(used for variant description)
(last modified November 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018699.2 in the PRDM5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031862.2, covering PRDM5 transcript NM_018699.2.
(upstream sequence)
. g.5010
gcgccccccg c.-241
. . . . . . g.5070
cgcccccgcagcaggaatggcaggaacggatccgggccgagcccgacccgggacgaggag c.-181
. . . . . . g.5130
gggctgagccgcgggggatcctggaatcggcagggaggtggggattctgggaggaaaact c.-121
. . . . . . g.5190
ccatttcctccttccctgccggtttctcccctctaccctggcaccccaaatttcgatgtg c.-61
. . . . . . g.5250
ccgcctgccgggcgctaagcgccggtgttgagagaggcggcggccgccgcgcccgggaaa c.-1
. . . . . . g.5310
ATGCTGGGCATGTACGTGCCGGACAGGTTCTCCCTGAAGTCCTCCCGGGTTCAGGACGGC c.60
M L G M Y V P D R F S L K S S R V Q D G p.20
. . . | 02 . . . g.20328
ATGGGGCTCTACACGGCCCGCAGAGTGCGAAAG | GGTGAAAAGTTCGGACCCTTTGCTGGA c.120
M G L Y T A R R V R K | G E K F G P F A G p.40
. . . . . | 03. g.74321
GAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAG | GTT c.180
E K R M P E D L D E N M D Y R L M W E | V p.60
. . . . . . g.74381
CGTGGGAGTAAGGGAGAAGTTTTGTACATTTTGGATGCTACCAACCCACGGCACTCCAAC c.240
R G S K G E V L Y I L D A T N P R H S N p.80
. . . . . . g.74441
TGGCTTCGCTTCGTTCATGAGGCACCATCTCAGGAGCAGAAGAACTTGGCTGCCATTCAA c.300
W L R F V H E A P S Q E Q K N L A A I Q p.100
| 04 . . . . . . g.106573
| GAAGGAGAAAACATTTTCTATTTGGCAGTTGAAGATATAGAAACAGACACGGAGCTTCTG c.360
| E G E N I F Y L A V E D I E T D T E L L p.120
. . . . . . g.106633
ATTGGCTACCTGGATAGTGACATGGAGGCTGAGGAGGAAGAACAGCAAATTATGACAGTC c.420
I G Y L D S D M E A E E E E Q Q I M T V p.140
. . . . . | 05 . g.109336
ATCAAAGAAGGGGAAGTTGAAAATTCTAGAAGACAATCAACAGCGGGCAGAAAAG | ATCGC c.480
I K E G E V E N S R R Q S T A G R K D | R p.160
. . . . . . g.109396
CTTGGCTGTAAAGAGGACTATGCTTGTCCTCAATGTGAATCGAGTTTTACCAGTGAGGAT c.540
L G C K E D Y A C P Q C E S S F T S E D p.180
. . . . . . g.109456
ATTCTTGCTGAGCATCTCCAGACATTGCACCAGAAACCCACAGAGGAGAAAGAATTTAAG c.600
I L A E H L Q T L H Q K P T E E K E F K p.200
. . . . . | 06 . g.110944
TGCAAGAACTGTGGGAAGAAATTCCCAGTTAAGCAGGCTTTGCAAAGACA | TGTTCTTCAG c.660
C K N C G K K F P V K Q A L Q R H | V L Q p.220
. . . . . . g.111004
TGCACAGCGAAAAGCAGTCTAAAGGAGTCTTCGCGAAGTTTTCAGTGCTCTGTTTGCAAT c.720
C T A K S S L K E S S R S F Q C S V C N p.240
. . | 07 . . . . g.111321
TCTTCCTTCAGTTCAGCATCGAG | TTTTGAGCAGCACCAGGAGACTTGCCGGGGGGATGCC c.780
S S F S S A S S | F E Q H Q E T C R G D A p.260
. . . . . . g.111381
AGGTTTGTGTGCAAGGCTGACAGCTGTGGAAAGAGGCTGAAGAGCAAGGATGCCCTGAAA c.840
R F V C K A D S C G K R L K S K D A L K p.280
. . | 08 . . . . g.116444
AGACACCAGGAAAATGTCCACACTG | GAGATCCTAAGAAAAAGCTTATATGTTCAGTGTGC c.900
R H Q E N V H T G | D P K K K L I C S V C p.300
. . . . | 09 . . g.128128
AATAAAAAGTGTTCTTCAGCATCAAGCCTACAGGAACATAGAAAG | ATTCATGAGATATTT c.960
N K K C S S A S S L Q E H R K | I H E I F p.320
. . . . . . g.128188
GATTGTCAAGAATGTATGAAGAAATTTATTTCAGCTAATCAGCTAAAACGTCATATGATC c.1020
D C Q E C M K K F I S A N Q L K R H M I p.340
. | 10 . . . . . g.129484
ACCCACTCAG | AAAAACGACCCTATAATTGCGAGATTTGTAATAAGTCTTTCAAGAGGCTT c.1080
T H S E | K R P Y N C E I C N K S F K R L p.360
. . . . . . g.129544
GATCAAGTGGGTGCTCACAAAGTAATACACAGCGAAGACAAACCTTACAAATGCAAACTT c.1140
D Q V G A H K V I H S E D K P Y K C K L p.380
. . . . | 11 . g.142779
TGTGGAAAGGGATTTGCCCACAGAAATGTTTACAAGAATCATAAGAAG | ACCCACTCTGAG c.1200
C G K G F A H R N V Y K N H K K | T H S E p.400
. . . . . . g.142839
GAGAGACCGTTCCAATGTGAAGAATGTAAAGCTTTGTTCCGGACCCCATTTTCTTTACAG c.1260
E R P F Q C E E C K A L F R T P F S L Q p.420
. . | 12 . . . . g.146593
AGACACCTGCTAATACATAACA | GTGAGAGGACTTTCAAGTGCCATCACTGCGATGCTACC c.1320
R H L L I H N S | E R T F K C H H C D A T p.440
. . . . . . g.146653
TTTAAGAGGAAGGATACATTAAATGTTCATGTCCAGGTGGTTCATGAAAGACACAAGAAG c.1380
F K R K D T L N V H V Q V V H E R H K K p.460
. . . . . . g.146713
TATAGGTGTGAGCTATGTAATAAGGCCTTTGTTACACCTTCAGTGCTTAGAAGTCATAAG c.1440
Y R C E L C N K A F V T P S V L R S H K p.480
| 13 . . . . . . g.150634
AAA | ACACATACAGGAGAAAAGGAGAAAATCTGTCCATATTGTGGCCAGAAATTTGCCAGC c.1500
K | T H T G E K E K I C P Y C G Q K F A S p.500
. . . | 14. . . g.173243
AGTGGTACACTCAGAGTTCATATCCGGAGCCACACAG | GTGAGCGTCCCTATCAATGTCCT c.1560
S G T L R V H I R S H T G | E R P Y Q C P p.520
. . . . . . g.173303
TACTGTGAAAAAGGATTCAGTAAAAATGATGGACTGAAGATGCACATTCGTACTCACACC c.1620
Y C E K G F S K N D G L K M H I R T H T p.540
| 15 . . . . . . g.217502
AGG | GAGAAGCCGTACAAGTGCTCAGAGTGCAGCAAGGCCTTCAGCCAGAAGCGAGGCCTG c.1680
R | E K P Y K C S E C S K A F S Q K R G L p.560
. . . . | 16 . g.232595
GATGAGCACAAGAGGACGCACACTGGAGAAAAGCCTTTTCAGTGTGAT | GTTTGTGATTTG c.1740
D E H K R T H T G E K P F Q C D | V C D L p.580
. . . . . . g.232655
GCTTTTAGCCTGAAGAAAATGCTGATTCGACACAAGATGACTCATAATCCCAATCGTCCC c.1800
A F S L K K M L I R H K M T H N P N R P p.600
. . . . . . g.232715
CTGGCAGAATGCCAGTTTTGCCATAAGAAGTTTACAAGGAATGACTACCTCAAAGTGCAC c.1860
L A E C Q F C H K K F T R N D Y L K V H p.620
. . . g.232748
ATGGACAATATCCATGGTGTAGCTGACAGCTAA c.1893
M D N I H G V A D S X p.630
. . . . . . g.232808
taggggctgtaaaggaattaaactattcagaagggctcctaatatgaatcccagattttt c.*60
. . . . . . g.232868
atcacctgatcagcataacagaagtagccaaaagtgacttactggtctcatagttcttat c.*120
. . . . . . g.232928
ttgcctacatttagagtctgtagatgcatatgcaaccaaaaaaaagtcttacttttaaca c.*180
. . . . . . g.232988
agaaatggtataaatggaaaaaaaatacaactccatagccttgcaaaatgcaacttgtgc c.*240
. . . . . . g.233048
tctgtcttataaaaatggagaaaggagtcatggctctctttcttggccatccctctgtaa c.*300
. . . g.233085
tgaagtttataatatacttccctaataggccttttta c.*337
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 20b
©2004-2017 Leiden University Medical Center