(used for variant description)
(last modified June 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_002547.2 in the OPHN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering OPHN1 transcript NM_002547.2.
(upstream sequence)
. . . . . g.5054
agagaggctgttcccagctccagctctaacctcgcctacaccttgggcgggccc c.-241
. . . . . . g.5114
aagtgtcacgtttgcaattgctcaggaaggatccggcccgtctccggaggcaagtcgggc c.-181
. . . . . . g.5174
tgcggtttttgctgcttatctgggaaggcgatgcctaagggacatgctgcttgctaggca c.-121
. . . . . . g.5234
gcaccctgccgggatccgactgcgatagttagctctccctggccctgaagccatcgccgg c.-61
. . . . . . | 02 g.5437
ggcgcctgttctctgtccggaccagccagcgctcctcaggagtctcactgaaacag | aacc c.-1
. . . . . . g.5497
ATGGGTCATCCCCCGCTGGAGTTCAGCGACTGCTACCTGGACAGCCCCGATTTCCGCGAG c.60
M G H P P L E F S D C Y L D S P D F R E p.20
. . . . . . g.5557
AGGCTCAAGTGTTATGAGCAGGAACTGGAGAGGACCAACAAATTCATCAAAGACGTAATC c.120
R L K C Y E Q E L E R T N K F I K D V I p.40
. . . | 03 . . . g.139387
AAAGACGGCAACGCGCTTATCAGCGCTATGAGAA | ATTATTCTTCTGCTGTTCAGAAATTT c.180
K D G N A L I S A M R N | Y S S A V Q K F p.60
. . . . . . g.139447
TCCCAGACGCTGCAGTCATTTCAGTTTGATTTCATTGGAGACACTCTGACTGATGATGAA c.240
S Q T L Q S F Q F D F I G D T L T D D E p.80
. | 04 . . . . . g.155390
ATTAACATCG | CTGAATCCTTCAAGGAATTTGCTGAATTGCTCAACGAGGTAGAAAATGAG c.300
I N I A | E S F K E F A E L L N E V E N E p.100
. | 05 . . . . . g.163696
AGGATGATGATG | GTACACAATGCTAGTGATTTGCTGATTAAACCCTTGGAAAATTTCCGG c.360
R M M M | V H N A S D L L I K P L E N F R p.120
. . | 06 . . . . g.203905
AAGGAACAAATAGGCTTCACCAAG | GAGCGGAAAAAGAAATTTGAAAAGGATGGTGAGAGG c.420
K E Q I G F T K | E R K K K F E K D G E R p.140
. . . . . . g.203965
TTTTATTCTTTACTGGATCGGCACTTACACCTGTCTTCAAAAAAGAAAGAATCTCAGTTA c.480
F Y S L L D R H L H L S S K K K E S Q L p.160
| 07 . . . . . . g.224539
CAAGAG | GCAGACCTACAGGTGGACAAGGAGAGGCACAATTTTTTCGAGTCCTCTCTTGAT c.540
Q E | A D L Q V D K E R H N F F E S S L D p.180
. . . . . | 08. g.226248
TATGTTTATCAAATCCAGGAAGTTCAGGAGTCCAAGAAGTTCAATATTGTGGAGCCT | GTC c.600
Y V Y Q I Q E V Q E S K K F N I V E P | V p.200
. . . . . . g.226308
TTGGCCTTTCTTCATAGTCTGTTCATTTCTAACAGCCTGACTGTGGAGCTCACACAGGAT c.660
L A F L H S L F I S N S L T V E L T Q D p.220
. . . . | 09 . . g.228193
TTCCTCCCATACAAACAACAGCTCCAACTCAGTTTACAGAAT | ACAAGAAATCATTTCTCC c.720
F L P Y K Q Q L Q L S L Q N | T R N H F S p.240
. . . . . . g.228253
AGTACCCGGGAAGAGATGGAAGAACTTAAGAAAAGGATGAAAGAAGCTCCCCAGACATGC c.780
S T R E E M E E L K K R M K E A P Q T C p.260
. . . . . | 10 . g.231792
AAACTTCCAGGACAGCCAACTATTGAAGGCTATCTCTATACACAAGAGAAAT | GGGCTTTA c.840
K L P G Q P T I E G Y L Y T Q E K W | A L p.280
. . . . . . g.231852
GGAATATCCTGGGTGAAATACTATTGCCAGTATGAGAAAGAGACCAAAACACTGACCATG c.900
G I S W V K Y Y C Q Y E K E T K T L T M p.300
. . . | 11 . . . g.236774
ACGCCTATGGAGCAGAAGCCAGGTGCTAAGCAG | GGGCCCTTGGACTTAACACTGAAGTAC c.960
T P M E Q K P G A K Q | G P L D L T L K Y p.320
. . . . . . g.236834
TGTGTGAGAAGGAAGACGGAGTCTATCGACAAGAGGTTCTGTTTTGACATAGAAACTAAT c.1020
C V R R K T E S I D K R F C F D I E T N p.340
| 12 . . . . . . g.241248
GAAAG | GCCAGGAACCATCACTCTGCAGGCCCTTTCAGAAGCTAACAGAAGGCTATGGATG c.1080
E R | P G T I T L Q A L S E A N R R L W M p.360
. . | 13 . . . | 14 g.244507
GAAGCCATGGATGGGAAAGAACCT | ATCTACCACAGCCCTATAACAAAACAGCAAGAAA | TG c.1140
E A M D G K E P | I Y H S P I T K Q Q E M | p.380
. . . . . . g.244567
GAGCTAAATGAAGTGGGCTTCAAGTTTGTCAGGAAGTGCATCAATATTATTGAGACCAAA c.1200
E L N E V G F K F V R K C I N I I E T K p.400
| 15 . . . . . . g.245523
G | GGATCAAGACAGAAGGGTTGTACCGCACTGTGGGCAGCAATATTCAGGTTCAGAAGCTG c.1260
G | I K T E G L Y R T V G S N I Q V Q K L p.420
. | 16 . . . . . g.319169
CTGAATGCCTTTTTTG | ATCCTAAATGCCCAGGAGATGTTGATTTTCATAATAGTGACTGG c.1320
L N A F F D | P K C P G D V D F H N S D W p.440
. . . . | 17 . . g.325237
GACATTAAGACAATCACCAGCTCCTTGAAATTCTACCTCAG | GAATCTTTCTGAACCTGTC c.1380
D I K T I T S S L K F Y L R | N L S E P V p.460
. . . . | 18 . . g.326518
ATGACCTATAGACTTCACAAAGAGCTGGTCTCTGCTGCCA | AGTCTGACAACCTGGATTAC c.1440
M T Y R L H K E L V S A A K | S D N L D Y p.480
. . . . . . g.326578
CGCCTAGGAGCTATTCACTCCCTGGTATATAAGCTACCAGAAAAGAACCGAGAGATGCTG c.1500
R L G A I H S L V Y K L P E K N R E M L p.500
. . | 19 . . . . g.341462
GAACTTCTGATAAGACACTTGGTCAA | TGTGTGTGAGCACAGCAAAGAGAATCTTATGACC c.1560
E L L I R H L V N | V C E H S K E N L M T p.520
. . . . . . g.341522
CCCTCCAACATGGGAGTAATCTTTGGGCCCACCCTGATGAGAGCTCAGGAGGACACTGTG c.1620
P S N M G V I F G P T L M R A Q E D T V p.540
. . . . . . g.341582
GCCGCCATGATGAACATCAAATTCCAGAACATAGTGGTGGAAATACTAATCGAGCACTTT c.1680
A A M M N I K F Q N I V V E I L I E H F p.560
| 20 . . . . . . g.365212
GGCAAG | ATCTATTTAGGTCCACCTGAGGAAAGCGCTGCACCGCCAGTGCCTCCGCCTCGG c.1740
G K | I Y L G P P E E S A A P P V P P P R p.580
. . . . . . g.365272
GTGACAGCAAGAAGGCACAAACCAATCACGATTTCAAAGCGCTTGCTGCGAGAAAGGACG c.1800
V T A R R H K P I T I S K R L L R E R T p.600
. . . | 21 . . . g.374306
GTTTTCTATACTTCTTCCCTGGATGAAAGCGAAG | ATGAAATCCAACATCAAACACCGAAT c.1860
V F Y T S S L D E S E D | E I Q H Q T P N p.620
. . . . . . g.374366
GGTACTATCACCAGCAGCATAGAACCCCCCAAGCCACCACAACACCCCAAACTACCTATT c.1920
G T I T S S I E P P K P P Q H P K L P I p.640
. . . . . . g.374426
CAGAGGAGTGGGGAAACTGATCCTGGGAGGAAGTCCCCAAGCAGGCCTATTTTGGATGGC c.1980
Q R S G E T D P G R K S P S R P I L D G p.660
. . . . . . g.374486
AAGTTGGAGCCCTGCCCAGAGGTGGACGTGGGGAAGTTGGTGTCTAGGCTGCAGGATGGA c.2040
K L E P C P E V D V G K L V S R L Q D G p.680
. . . . . . g.374546
GGGACCAAGATCACCCCAAAGGCCACCAATGGACCCATGCCAGGCTCTGGGCCCACCAAG c.2100
G T K I T P K A T N G P M P G S G P T K p.700
. . . . . | 22 g.384649
ACCCCCTCTTTCCACATAAAGAGACCAGCTCCCCGGCCCCTGGCCCACCACAAGGAGG | GG c.2160
T P S F H I K R P A P R P L A H H K E G | p.720
. . . . . . g.384709
GATGCTGACAGTTTCAGCAAAGTGCGGCCTCCAGGAGAAAAGCCAACCATCATCCGCCCC c.2220
D A D S F S K V R P P G E K P T I I R P p.740
. . . . . . g.384769
CCAGTGAGGCCCCCAGATCCTCCCTGCCGGGCAGCTACTCCCCAAAAGCCAGAACCAAAG c.2280
P V R P P D P P C R A A T P Q K P E P K p.760
. . . . | 23 . . g.385883
CCAGATATTGTGGCTGGCAATGCGGGGGAAATCACATCATCTGT | GGTGGCTTCCAGGACC c.2340
P D I V A G N A G E I T S S V | V A S R T p.780
. . . | 24 . . . g.390025
AGGTTTTTTGAAACAGCTTCCCGGAAAACAGGAAG | TTCTCAAGGCAGACTTCCTGGAGAT c.2400
R F F E T A S R K T G S | S Q G R L P G D p.800
g.390034
GAAAGTTGA | c.2410
E S X p.802
| 25 . . . . . g.391346
ggctacag | gttttaaaagccttggcctcagaggaccctttccaggttctgaaagagtctt c.*60
. . . . . . g.391406
tcttcttcaaacctttgtgtgcggagtcattttgtgttgaagagcagctccttcctagcc c.*120
. . . . . . g.391466
ttgcactttcagactctctctgggaggccataaaataaggagcatatgtcctagacaggt c.*180
. . . . . . g.391526
gtttatatctcctttgtattctgtcttcatcccctcagaaggtctgttttgagttcctat c.*240
. . . . . . g.391586
aacactgtgaagagctggactccctcaagccagactctgccaaaaccaagatatccactt c.*300
. . . . . . g.391646
acctgagttgaagaggggagctcagttttcaactcttccctgaacttcctgcttcctcag c.*360
. . . . . . g.391706
agggccattgaactctgagagatttggggctaaagactgatctcaggggtcttaccttga c.*420
. . . . . . g.391766
actgaaggccacttgagttggggccattgcttaccttggttggaagggaatagaaatgtt c.*480
. . . . . . g.391826
tgctgaacattggagaatctcaacatgtctcctactgaggatatggacactggtgccatg c.*540
. . . . . . g.391886
tcagcgctctggtgctgcagtatgttgccaagagcccgtctgctcctgcgaggctatgag c.*600
. . . . . . g.391946
tgggatgagtgatgcccccacagcacctccatgtggacttaggaaggtggccttcctgct c.*660
. . . . . . g.392006
gttacatgcagccacttaggacaaatctgcaaagcatgttttgcatgtaaaagcctaggt c.*720
. . . . . . g.392066
ctatttggattattctttctccttttttttgacagcttcctgtcaagcaatcaagaaaca c.*780
. . . . . . g.392126
aacaaaagctgaacacatttctttttaaaaaaaggagactgtgtttggtcctgtaggagt c.*840
. . . . . . g.392186
tctattttggggtcaaatgctagaaaaattgttaaggtggattgaggccaggcagctgtc c.*900
. . . . . . g.392246
actgctgcttcatgtttgccttctgcacataaactcttttatctcctgaaaaaagcagtt c.*960
. . . . . . g.392306
cttaacccagtgtccatggactcagaaactccatgatgcccctgagatggtatgcacaat c.*1020
. . . . . . g.392366
tccatgacaatatgccctttctggggagatagtccataatgttctgctaaatttcaaatg c.*1080
. . . . . . g.392426
ggctcgtgacccaaaaaagtcaagaaccacagcacttgagtaaaatactctttttacaat c.*1140
. . . . . . g.392486
ccatataagcccttgattggaagggcttttcaaaatcatttagtctaacaactgcccagt c.*1200
. . . . . . g.392546
ttccagtcgggggaactgaggcagagcaaggtagtgatcacaccagtacaagatctcagg c.*1260
. . . . . . g.392606
tcccaggctcctatgcaagttttttttccccattatatcacacttatctagcaagggacc c.*1320
. . . . . . g.392666
ttgtggtttgtggctttagtggccatcatttctgggggttggcttttaccctttttcttg c.*1380
. . . . . . g.392726
aatatttgccaccaagtgaaaaatgttaggacataaacccttgccaggtccctttcattt c.*1440
. . . . . . g.392786
gctatctctattattggaaaggacctaaaaattggtgtaatggggcagaaatctgaggaa c.*1500
. . . . . . g.392846
tggacatttctaattcctgtttgttgaagggaagttgctggaaagagcatcagtacttgt c.*1560
. . . . . . g.392906
ttctatgcagatgcctgggccgtagcttgtctgtagcgtctgtataattataatgttgcc c.*1620
. . . . . . g.392966
cagtgtgagggaaagagctttcctacttgcactcttctaccaaggccctgttagtgcact c.*1680
. . . . . . g.393026
gattatagtactgacagataaacctagataaagagatagagagtgagtacatgcacactc c.*1740
. . . . . . g.393086
atgtgcaaacccactcagagatgcatttggaacagtgctactgaaaggcagtagtcattt c.*1800
. . . . . . g.393146
tcaagactgaattccaaacatggtttattggtgagttaggaacatgtaaggccaagtaca c.*1860
. . . . . . g.393206
ctgagagcctttttgaaagtaattgagtggaaacttgatgccattctaaatcaaggcata c.*1920
. . . . . . g.393266
tccaggtggcccggttgaactcactccactgtacccagtctcaaaggccaggttgctaag c.*1980
. . . . . . g.393326
aaaccaggagtaaaagagtcaagtgaccatcatttcacctgctgcttgcccccaatagta c.*2040
. . . . . . g.393386
gtctctgtgaggccttactgacctcacctaggaagtgatttttgagcccttgtttcaggg c.*2100
. . . . . . g.393446
ctgtggcctccctgctctatcctgaataaagcagacaggtgtgcagattttggccatgaa c.*2160
. . . . . . g.393506
agcatggctaatagggccacagtccctttaaagaaacatggtttgactctggttttcttg c.*2220
. . . . . . g.393566
ggggaaaataccacaatcaccgatgcaaacattggaagattattgagagccctagaaagc c.*2280
. . . . . . g.393626
tgctgtgatcccagtagaaaatatgtcccagaaatgtcatgagattgctgtgtgttgcct c.*2340
. . . . . . g.393686
gggacacagatcaagggcctatcttggagagctggggaccagcagtctgcctggaggcca c.*2400
. . . . . . g.393746
gggagcagtggctgagtagctctgcctttgctctggtctataccttaagaatgccaaaga c.*2460
. . . . . . g.393806
atgaatttcaacgcctgcctttggcactctgacttaaagtgcaaaaagcttctgtggcga c.*2520
. . . . . . g.393866
ggcatgctatcatggaatgagactggcttgccctaggcttaatggatgggcagtcatttt c.*2580
. . . . . . g.393926
gcagaggctatgggaagagggtgataatagaagagtggcagctataggaaattatcaaca c.*2640
. . . . . . g.393986
taccttggccagcaagttagagaatctggcaatggatgaactgaaagtgatgaactggca c.*2700
. . . . . . g.394046
gggataacaaagaacctaacatttattaagcacgtatttattaactgctcagtgtttcat c.*2760
. . . . . . g.394106
attcatgcaagtattctcattttacagagaaagaaattatggcccagggggctaaagtaa c.*2820
. . . . . . g.394166
acaactcaagggcacatagaaagtaaataaaaggactgtgatttgaatccaggccactct c.*2880
. . . . . . g.394226
tagcccatgctgttttccctttgccacactgtggtaggtgtttgaacagaggccacatta c.*2940
. . . . . . g.394286
ctagagttggcatgactcttgactcttgcctgcctaacaaaatattgaaaggcaaacatt c.*3000
. . . . . . g.394346
tgaaggagggagggggtgcaggttcagtttatatggaaatgcaaactgggctggaagata c.*3060
. . . . . . g.394406
ttcctgagttaggctttctcttcatattcagcttgcacatttggtaatgtttttaagatg c.*3120
. . . . . . g.394466
atcatctaattttattttgtgaagtgaaggatttgtgttttagttggcagttgttaagtc c.*3180
. . . . . . g.394526
cttggcttgccatttttcaaaaagtaaaaaggtcctcacaggtgtctccatacttcgcca c.*3240
. . . . . . g.394586
aggttgtagcatgggcagtttcagtttcagcctaagagactggtgacatccacaaatgca c.*3300
. . . . . . g.394646
gttttagaagcagaaaaggtcttggtgcctctgcagtacttgatgtattggggtcaaatc c.*3360
. . . . . . g.394706
tctacaaatttttctgtggtgatagcaaaatcaagagatggcttacaaaaagaaatattg c.*3420
. . . . . . g.394766
aatttttatttttgaagtttttgttttttaaaaggttgggggtgttcagccactgaggga c.*3480
. . . . . . g.394826
caaaacttagcatctaatttcaattatagtgtcatgcagagtatttctaaagtaattggt c.*3540
. . . . . . g.394886
tatcatgggaaagtattctcttttcaagaagttctttgattctgtaataactagaacaaa c.*3600
. . . . . . g.394946
taaagtagtaaaagaagaaatagttctgtgactaggaaaaaattgcttttgagagaacat c.*3660
. . . . . . g.395006
agatcaattatactacttctaaggtagctgcagataagtggccttgacacattacaagcc c.*3720
. . . . . . g.395066
tggaaaaaaacatcagaaataataaaaaatttcagagagaatcaagataccttttttttt c.*3780
. . . . . . g.395126
cttttttttttcttttttttattatactctaagttttagggtacatgtgcacattgtgca c.*3840
. . . . . . g.395186
ggttagttacatatgtatacatgtgccatgctggtgcgctgcacccactaatgtgtcatc c.*3900
. . . . . . g.395246
tagcattaggtatatctcccagtgctatccctcccccctcccccgaccccaccacagtcc c.*3960
. . . . . . g.395306
ccagagtgtgatattccccttcctgtgtccatgtgatctcattgttcaattcccacctat c.*4020
. . . . . . g.395366
gagtgagaatatgcggtgtttggttttttgttcttgcgatagtttactgagaatgatggt c.*4080
. . . . . . g.395426
ttccaatttcatccatgtccctacaaaggatatgaactcatcattttttatggctgcata c.*4140
. . . . . . g.395486
gtattccatggtgtatatgtgccacattttcttaatccagtctatcattgttggacattt c.*4200
. . . . . . g.395546
gggttggttccaagtctttgctattgtgaatagtgccgcaataaacatacgtgtgcatgt c.*4260
. . . . . . g.395606
gtctttatagcagcatgatttatactcatttgggtatatacccagtaatgggatggctgg c.*4320
. . . . . . g.395666
gtcaaatggtatttctagttctagatccctgaggaatcgccacactgacttccacaatgg c.*4380
. . . . . . g.395726
ttgaactagtttacagtccaaccaacagtgtaaaagtgttcctatttctccgcatcctct c.*4440
. . . . . . g.395786
ccagcacctgttgtttcctgactttttaatgattgccattctaactggtgtgagatgata c.*4500
. . . . . . g.395846
tctcatagtggttttgatttgcatttctctgatggccagtgatgatgagcatttcttcat c.*4560
. . . . . . g.395906
gtgttttttggctgcataaatgtcttcttttgagaagtgtctgttcatgtccttcgcgaa c.*4620
. . . . . . g.395966
ggacaagataccttaaagataagttttcgataaagaaaagccttcattttcctgggggaa c.*4680
. . . . . . g.396026
atgaagcacttgatgccaaggacattagtagagggctagaaagattgcctgtgtgaaaga c.*4740
. . . . . . g.396086
catatgctatatccaaataataaaacaaacgagatcctggggctcattcatgtgactttc c.*4800
. . g.396114
aataaagtatgtagactgtctaatataa c.*4828
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 10b
©2004-2014 Leiden University Medical Center