(used for variant description)
(last modified September 26, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001164232.1 in the DDHD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering DDHD2 transcript NM_001164232.1.
(upstream sequence)
. . g.5482
ggaacctcggctcccgggaa c.-181
. . . . . . g.5542
gccccgagcctgggggaaccctgggcaccctgtgaaccctgtggtctgcactggctgccc c.-121
. . . . . . g.5602
tgctgctgtcgcggggctgcgggcggacgacctgagcccgagctccgagggcccggagcg c.-61
. . . . . . | 02 g.6504
gggcgccagggcctagggtcgcgggggccaggggcgcgccagggtggctgag | agagcgaa c.-1
. . . . . . g.6564
ATGTCATCAGTGCAGTCACAACAGGAGCAGTTGTCCCAGTCAGATCCATCTCCGTCACCA c.60
M S S V Q S Q Q E Q L S Q S D P S P S P p.20
. . . . . . g.6624
AACTCATGTAGTTCCTTTGAGCTAATAGACATGGATGCTGGCAGCTTGTATGAACCAGTT c.120
N S C S S F E L I D M D A G S L Y E P V p.40
. . . . . . g.6684
TCTCCCCATTGGTTTTATTGTAAGATAATAGATTCTAAGGAGACATGGATTCCTTTCAAC c.180
S P H W F Y C K I I D S K E T W I P F N p.60
. . . . | 03 . . g.7923
TCTGAGGATTCACAGCAGCTGGAAGAGGCATATAGCTCTG | GAAAAGGTTGTAATGGGAGA c.240
S E D S Q Q L E E A Y S S G | K G C N G R p.80
. . . . . . g.7983
GTTGTTCCTACTGATGGGGGCAGATATGATGTTCATTTGGGGGAGAGGATGCGGTATGCT c.300
V V P T D G G R Y D V H L G E R M R Y A p.100
. . . . . . g.8043
GTATACTGGGATGAACTGGCATCGGAAGTGAGACGATGTACGTGGTTTTACAAGGGGGAC c.360
V Y W D E L A S E V R R C T W F Y K G D p.120
. . . . . | 04 . g.11056
AAAGACAATAAGTATGTTCCCTACTCGGAGAGCTTCAGCCAAGTTTTAGAG | GAAACTTAC c.420
K D N K Y V P Y S E S F S Q V L E | E T Y p.140
. . . . . . g.11116
ATGCTTGCTGTAACTTTGGATGAATGGAAAAAGAAACTGGAATCTCCCAACAGAGAAATT c.480
M L A V T L D E W K K K L E S P N R E I p.160
. . | 05 . . . . g.11637
ATTATTTTACACAATCCAAAG | CTTATGGTGCATTACCAGCCAGTTGCAGGGTCTGATGAT c.540
I I L H N P K | L M V H Y Q P V A G S D D p.180
. . . . . . g.11697
TGGGGTTCAACACCCACGGAGCAGGGTCGACCAAGAACTGTGAAGAGAGGAGTTGAGAAC c.600
W G S T P T E Q G R P R T V K R G V E N p.200
. . | 06 . . . . g.13822
ATCTCTGTTGACATTCATTGTG | GAGAACCTTTACAAATAGATCACTTGGTTTTTGTAGTC c.660
I S V D I H C G | E P L Q I D H L V F V V p.220
. . . . . | 07 . g.15767
CATGGGATTGGACCAGCTTGTGATCTCCGCTTTCGAAGCATTGTACAGTGTG | TTAATGAT c.720
H G I G P A C D L R F R S I V Q C V | N D p.240
. . . . . . g.15827
TTTCGCAGTGTTTCCTTGAACTTGCTACAGACACATTTTAAGAAAGCCCAAGAAAATCAG c.780
F R S V S L N L L Q T H F K K A Q E N Q p.260
. . . . . . g.15887
CAGATTGGGAGGGTAGAATTTCTTCCAGTCAACTGGCACAGTCCTTTGCATTCTACTGGT c.840
Q I G R V E F L P V N W H S P L H S T G p.280
| 08 . . . . . g.19303
GTGGATGT | AGATCTGCAGCGAATAACCCTGCCCAGCATTAACCGCCTCAGGCACTTCACC c.900
V D V | D L Q R I T L P S I N R L R H F T p.300
. . . . . . g.19363
AATGACACAATTCTGGATGTCTTCTTCTACAATAGTCCCACCTACTGTCAGACTATTGTG c.960
N D T I L D V F F Y N S P T Y C Q T I V p.320
. . . . . . g.19423
GACACAGTTGCTTCTGAAATGAACCGAATATACACACTTTTTCTACAGAGGAACCCTGAT c.1020
D T V A S E M N R I Y T L F L Q R N P D p.340
. . . | 09. . . g.19765
TTCAAAGGGGGTGTATCCATTGCTGGTCATAGTTTAG | GTTCGCTTATATTGTTTGATATC c.1080
F K G G V S I A G H S L G | S L I L F D I p.360
. . . . | 10 . . g.21237
CTAACAAATCAGAAAGATTCTTTGGGGGATATTGACAGTGAAAAG | GATTCGCTAAATATT c.1140
L T N Q K D S L G D I D S E K | D S L N I p.380
. . . . . . g.21297
GTAATGGATCAAGGAGATACACCTACACTAGAGGAAGATTTGAAGAAACTTCAGCTCTCT c.1200
V M D Q G D T P T L E E D L K K L Q L S p.400
. . . . | 11 . g.23229
GAATTCTTTGATATCTTTGAGAAGGAGAAAGTAGATAAGGAAGCTCTG | GCTTTATGTACA c.1260
E F F D I F E K E K V D K E A L | A L C T p.420
. . . . . . g.23289
GACCGAGATCTTCAGGAAATAGGAATTCCTTTAGGACCAAGAAAGAAGATATTAAACTAT c.1320
D R D L Q E I G I P L G P R K K I L N Y p.440
. . | 12 . . . . g.25457
TTCAGCACCAGAAAAAACTCAATG | GGTATTAAGAGACCAGCCCCGCAGCCTGCTTCAGGG c.1380
F S T R K N S M | G I K R P A P Q P A S G p.460
. . . . . . g.25517
GCAAACATCCCCAAAGAATCTGAGTTCTGCAGTAGCAGTAATACTAGAAATGGTGACTAT c.1440
A N I P K E S E F C S S S N T R N G D Y p.480
. . | 13 . . . . g.25680
CTGGATGTTGGCATTGGGCAG | GTGTCTGTGAAATACCCCCGGCTCATCTATAAACCAGAG c.1500
L D V G I G Q | V S V K Y P R L I Y K P E p.500
. . . . . . g.25740
ATATTCTTTGCCTTTGGATCTCCCATTGGAATGTTCCTTACTGTCCGAGGACTAAAAAGA c.1560
I F F A F G S P I G M F L T V R G L K R p.520
. . . . . | 14. g.26234
ATTGATCCCAACTACAGATTTCCAACGTGCAAAGGTTTCTTCAATATTTATCACCCT | TTT c.1620
I D P N Y R F P T C K G F F N I Y H P | F p.540
. . . . . . g.26294
GATCCTGTGGCCTATAGGATTGAACCAATGGTGGTCCCAGGAGTGGAATTTGAGCCAATG c.1680
D P V A Y R I E P M V V P G V E F E P M p.560
. . . . | 15 . . g.26486
CTGATCCCACATCATAAAGGCAGGAAGCGGATGCACTTAG | AACTGAGAGAGGGCTTGACC c.1740
L I P H H K G R K R M H L E | L R E G L T p.580
. . . . . . g.26546
AGGATGAGTATGGACCTTAAGAACAACTTGCTAGGTTCGCTGCGGATGGCCTGGAAGTCT c.1800
R M S M D L K N N L L G S L R M A W K S p.600
. . . . . . g.26606
TTTACCAGAGCTCCATACCCTGCCTTACAAGCTTCAGAAACACCAGAAGAAACTGAAGCA c.1860
F T R A P Y P A L Q A S E T P E E T E A p.620
. . . | 16 . . . g.27094
GAACCTGAATCAACTTCAGAGAAGCCTAGTG | ATGTTAACACAGAAGAGACCTCTGTGGCA c.1920
E P E S T S E K P S D | V N T E E T S V A p.640
. . . . . . g.27154
GTTAAAGAAGAAGTCCTGCCTATCAATGTGGGGATGCTGAATGGAGGCCAACGCATTGAC c.1980
V K E E V L P I N V G M L N G G Q R I D p.660
. . . . . . g.27214
TATGTGCTACAGGAGAAGCCTATTGAAAGTTTTAATGAGTATTTATTTGCTTTACAAAGC c.2040
Y V L Q E K P I E S F N E Y L F A L Q S p.680
. | 17 . . . . . g.33595
CATCTATGCTACTG | GGAGTCTGAAGATACAGTATTGCTCGTCCTCAAAGAGATCTACCAA c.2100
H L C Y W | E S E D T V L L V L K E I Y Q p.700
. . . g.33631
ACCCAGGGTATCTTCCTTGATCAGCCTTTACAGTAA c.2136
T Q G I F L D Q P L Q X p.711
. . | 18 . . . . g.34143
aaatgacccatctatggctgcttaat | acggacattgagggatccttccccagaaaatcca c.*60
. . . . . . g.34203
cctgtttgttgctgcaattttcctctcctcagctgcgtcatttcctgcatgttgcctgcc c.*120
. . . . . . g.34263
acttactcaccactggggtctttggaagataatcttcctctttggaaatgaatggaaaag c.*180
. . . . . . g.34323
caaaaggccctattacttttaaccactggcttcatataaacacttgccatttttttctgc c.*240
. . . . . . g.34383
atagctgggggtggtttgtgtctttaattctttgatgatagtttatagttgccacacttt c.*300
. . . . . . g.34443
attgattagtacttgacagggtgtaaagcctattttgggtttgatttgttttgggtgggg c.*360
. . . . . . g.34503
tagacatgtttttaaggaacttattgcttatctttagaaaatgttctagtttggaaacag c.*420
. . . . . . g.34563
attcttgagattcagaaggcattttggagtacacttatctcttgtttgtgttgaactgaa c.*480
. . . . . . g.34623
ggctaagtctcagtggacatggaaaagacttttgggtgatttatttttgaacctgcattt c.*540
. . . . . . g.34683
ctttcttatgtgtagtgtatgaagaaagactagaatgtagctttaaaaaagtgttgttta c.*600
. . . . . . g.34743
ctctcttagaactgacagacttattgccagaaatcactgatgttcattgtttttgcaact c.*660
. . . . . . g.34803
gtttgagctgctgtaagagtctaaagttgacaagttagttcatgttaggtgcatctttat c.*720
. . . . . . g.34863
aaagcaaagatgttgtatatcctaggcctcccttttatatttgatagaagttatttgcta c.*780
. . . . . . g.34923
atagcttctattcttacgttgaaaatagttgtaaaagctgatgaacctgaaattgtgtag c.*840
. . . . . . g.34983
cctctacaggctgctgaggttctaaataaaaccttttagtggtgcctttatggtgaaaca c.*900
. . . . . . g.35043
gaatttgtcacctgccatttctacttgagctaaggtagtattgtgtatcctctttccttc c.*960
. . . . . . g.35103
ttaggtatccataatccacaaagcatatttaaaaggctcttggcacgggcagcattggtt c.*1020
. . . . . . g.35163
gagcaggtaggtttggctagggggaaatgtttaacttgttctgaaagaaaaacttatgtc c.*1080
. . . . . . g.35223
tgtagggtccaagaaacagctattccagagtcagtgtcagctgagtctggaacatatgaa c.*1140
. . . . . . g.35283
gtgaggtttacttctaagaacacaagtgactgcacactaattttgtcaaggcatcttttc c.*1200
. . . . . . g.35343
actactttgctgtagatttttcttcttcattggtcagtttgtcattgtctttgtagttct c.*1260
. . . . . . g.35403
ctttatgataatcctttatacttgctctcagattccacaggcctctgtttatagagtggc c.*1320
. . . . . . g.35463
aaaggcaggcgagctgtggtttattgtttataaatttttttataaatgttatggtattca c.*1380
. . . . . . g.35523
aagccactgacatttaatatttactgaagccattccttagacagcagtggtctttatccc c.*1440
. . . . . . g.35583
tttctggaaagaaaaggaaaatgaagggtaattactgtcaccatggagattgtagaggta c.*1500
. . . . . . g.35643
aggttggggtataggtcaggcctggcctttctttgtcatctgcttatagtctagtgctaa c.*1560
. . . . . . g.35703
gtatgccactaagtttcagatatatggaatactttatttttttaaaggtatataaactct c.*1620
. . . . . . g.35763
gagttattgagaattaagtattcactgtatattaaggggaagcttttgccaagttgtggt c.*1680
. . . . . . g.35823
cttcaaatttatgtttactcttcctattggcagaataggtgctatttaagagtaaaccaa c.*1740
. . . . . . g.35883
aggataagcagagggagtccctataaccaaagatggacagcatagccctggatagccaga c.*1800
. . . . . . g.35943
taaaccactctttgtattaagaaatgtttctttcctagtggtgaggggtgggtaactgtg c.*1860
. . . . . . g.36003
aaagagctttatatcttgtctattcatggtattatagctgtatattcccaggatgataag c.*1920
. . . . . . g.36063
cttgattgaaatcctgtatttagtcatatattatttgcgctgcttcatttgtatcatgtg c.*1980
. . . . . . g.36123
caatctctagaccaaccctatttttaaactctggtacagcatcattttgtacatattccc c.*2040
. . . . . . g.36183
agctgcagaactagtatcacttatctcagcaaaagagattgtttgcatggaaagattaat c.*2100
. . . . . . g.36243
agcactgattagatttctaatattttgcatttttgaaatgtttgttttctacgtgattat c.*2160
. . . g.36279
atttaaaactttagtaaatactaacatgaaaccata c.*2196
(downstream sequence)
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