(used for variant description)
(last modified March 15, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_203446.2 in the SYNJ1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering SYNJ1 transcript NM_203446.2.
(upstream sequence)
. . . . . . g.60
ATGCGGAAGAGATGGGCCTGCTGGAGCGGAAGTGACGCTCCCGGCGGCTGTGGCGGCGGC c.60
M R K R W A C W S G S D A P G G C G G G p.20
. . . | 02 . . . g.1148
TGCGGGAGAAGGAGGAGGAGGAGCCGGAGGAAGAG | GGCTGCCTCCGAAGAAAGGAGAATG c.120
C G R R R R R S R R K R | A A S E E R R M p.40
. . . . . . g.1208
GCGTTCAGTAAAGGATTCCGGATCTATCACAAATTGGATCCCCCACCTTTCAGCCTCATA c.180
A F S K G F R I Y H K L D P P P F S L I p.60
. . . . . . g.1268
GTGGAAACTAGGCATAAGGAAGAATGTCTCATGTTCGAGTCTGGGGCTGTCGCTGTGCTC c.240
V E T R H K E E C L M F E S G A V A V L p.80
| 03 . . . . . . g.26053
T | CATCTGCAGAAAAAGAGGCAATCAAGGGTACATACTCCAAAGTACTGGATGCATATGGA c.300
S | S A E K E A I K G T Y S K V L D A Y G p.100
. . | 04 . . . g.27968
CTCTTAGGTGTTCTGCGGTTAAATCTTG | GTGATACTATGTTACATTATCTGGTCCTAGTC c.360
L L G V L R L N L G | D T M L H Y L V L V p.120
. . . . . . g.28028
ACTGGATGTATGTCTGTTGGAAAAATTCAAGAATCTGAAGTTTTCCGAGTTACTTCCACT c.420
T G C M S V G K I Q E S E V F R V T S T p.140
. . . . . . g.28088
GAGTTTATATCACTGCGAATCGATTCTTCAGATGAGGATCGCATTTCAGAAGTGCGGAAA c.480
E F I S L R I D S S D E D R I S E V R K p.160
. . . . . . g.28148
GTTTTGAATTCAGGAAACTTTTATTTTGCATGGTCTGCATCTGGCATCAGTTTAGATTTG c.540
V L N S G N F Y F A W S A S G I S L D L p.180
. . . . . | 05 . g.32763
AGTCTTAATGCGCATCGTAGCATGCAAGAACAGACAACTGATAATAGATTTTTCTG | GAAT c.600
S L N A H R S M Q E Q T T D N R F F W | N p.200
. . . . . . g.32823
CAGTCTTTGCATTTGCATCTCAAACACTATGGCGTGAATTGTGATGACTGGTTATTACGT c.660
Q S L H L H L K H Y G V N C D D W L L R p.220
. . . . . . g.32883
CTTATGTGTGGAGGAGTAGAAATCAGAACAATTTATGCTGCTCATAAACAGGCGAAGGCT c.720
L M C G G V E I R T I Y A A H K Q A K A p.240
. . . . . . g.32943
TGCCTCATTTCAAGATTAAGCTGTGAACGAGCTGGGACCAGGTTTAATGTCCGGGGAACA c.780
C L I S R L S C E R A G T R F N V R G T p.260
. . . . | 06 . . g.33748
AATGATGATGGTCATGTTGCCAATTTTGTAGAAACAGAACAG | GTTGTGTACTTAGATGAC c.840
N D D G H V A N F V E T E Q | V V Y L D D p.280
. . . . . . g.33808
TCAGTTTCTTCCTTCATACAAATCCGAGGATCTGTTCCATTGTTCTGGGAGCAACCAGGG c.900
S V S S F I Q I R G S V P L F W E Q P G p.300
| 07 . . . . . . g.39728
TTGCAA | GTGGGATCTCATCGTGTCCGTATGTCAAGGGGATTTGAAGCCAATGCACCTGCT c.960
L Q | V G S H R V R M S R G F E A N A P A p.320
| 08 . . . . . g.41019
TTTGACAG | GCATTTTAGAACACTTAAGAACTTATATGGTAAACAAATAATAGTAAATTTG c.1020
F D R | H F R T L K N L Y G K Q I I V N L p.340
. . . . | 09 . . g.42139
CTTGGATCTAAGGAAGGTGAACATATGCTAAGTAAAGCTTTCCAG | AGTCATTTGAAAGCT c.1080
L G S K E G E H M L S K A F Q | S H L K A p.360
. . . . . . g.42199
TCTGAACATGCTGCTGATATCCAGATGGTGAATTTTGACTATCATCAAATGGTTAAGGGA c.1140
S E H A A D I Q M V N F D Y H Q M V K G p.380
. . . . . . g.42259
GGAAAGGCAGAAAAATTACATAGTGTTCTTAAACCTCAAGTCCAGAAGTTTCTAGATTAT c.1200
G K A E K L H S V L K P Q V Q K F L D Y p.400
. . . | 10 . . . g.43947
GGATTTTTTTATTTCAATGGAAGTGAAGTTCAAAG | ATGCCAGAGTGGTACAGTTCGAACA c.1260
G F F Y F N G S E V Q R | C Q S G T V R T p.420
. . . . . | 11. g.46396
AACTGCTTGGATTGTCTTGATAGAACAAATAGTGTGCAGGCATTTCTTGGCTTAGAG | ATG c.1320
N C L D C L D R T N S V Q A F L G L E | M p.440
. . . . . . g.46456
CTAGCTAAACAGTTGGAAGCTCTTGGTTTAGCTGAAAAGCCTCAGTTGGTGACTCGCTTT c.1380
L A K Q L E A L G L A E K P Q L V T R F p.460
. . . . . . g.46516
CAAGAAGTTTTTCGGTCAATGTGGTCCGTGAATGGTGATTCAATCAGTAAGATATATGCA c.1440
Q E V F R S M W S V N G D S I S K I Y A p.480
. . . | 12 . . . g.49270
GGAACTGGAGCTCTTGAAGGGAAAGCGAAG | TTAAAAGATGGTGCTCGCTCTGTTACCCGA c.1500
G T G A L E G K A K | L K D G A R S V T R p.500
. . . . . . g.49330
ACAATTCAGAATAACTTCTTTGACAGCTCCAAGCAAGAGGCCATTGATGTTTTGCTACTG c.1560
T I Q N N F F D S S K Q E A I D V L L L p.520
. . . . . . g.49390
GGAAATACTCTGAATAGTGATTTAGCTGACAAAGCTCGAGCACTTTTAACTACTGGAAGT c.1620
G N T L N S D L A D K A R A L L T T G S p.540
| 13. . . | 14 . . . g.54539
TTGCGTG | TTTCTGAGCAGACATTACAGTCAG | CATCTTCTAAAGTACTAAAGAGCATGTGT c.1680
L R V | S E Q T L Q S A | S S K V L K S M C p.560
. . . . . . g.54599
GAGAATTTCTACAAATATTCAAAGCCTAAGAAAATTCGAGTATGTGTCGGAACCTGGAAT c.1740
E N F Y K Y S K P K K I R V C V G T W N p.580
. . . . . . g.54659
GTGAATGGTGGGAAGCAATTTCGCAGCATAGCTTTTAAGAATCAGACACTCACTGACTGG c.1800
V N G G K Q F R S I A F K N Q T L T D W p.600
. . . . | 15 . . g.57686
CTTCTTGATGCACCCAAGTTAGCTGGCATCCAGGAGTTTCAAG | ATAAAAGAAGTAAGCCA c.1860
L L D A P K L A G I Q E F Q D | K R S K P p.620
. . . . . . g.57746
ACTGATATATTTGCAATTGGTTTTGAAGAAATGGTAGAATTGAATGCTGGAAACATTGTG c.1920
T D I F A I G F E E M V E L N A G N I V p.640
| 16 . . . . . g.61520
AGTGCAAG | CACAACAAATCAGAAGCTCTGGGCTGTAGAACTTCAGAAGACAATCTCCAGA c.1980
S A S | T T N Q K L W A V E L Q K T I S R p.660
. . . . . . g.61580
GACAACAAGTATGTGCTGCTGGCTTCTGAACAGTTGGTGGGCGTCTGTTTGTTTGTTTTT c.2040
D N K Y V L L A S E Q L V G V C L F V F p.680
. . | 17 . . . g.61937
ATCAGACCACAGCATGCTCCTTTTATCAG | GGATGTTGCAGTTGATACTGTGAAGACTGGA c.2100
I R P Q H A P F I R | D V A V D T V K T G p.700
. . . . . . g.61997
ATGGGAGGTGCAACTGGAAATAAGGGAGCAGTTGCAATCCGAATGCTCTTCCATACAACC c.2160
M G G A T G N K G A V A I R M L F H T T p.720
. . . . . . g.62057
AGCCTTTGCTTCGTCTGTAGCCACTTTGCTGCAGGGCAGTCACAAGTCAAAGAAAGAAAT c.2220
S L C F V C S H F A A G Q S Q V K E R N p.740
. . . . | 18 . . g.62988
GAAGATTTTATAGAAATAGCACGAAAATTGAGTTTTCCTATG | GGAAGGATGCTATTTTCC c.2280
E D F I E I A R K L S F P M | G R M L F S p.760
. . . . . . g.63048
CATGACTATGTATTTTGGTGTGGTGATTTCAACTATCGAATCGATCTCCCTAACGAAGAA c.2340
H D Y V F W C G D F N Y R I D L P N E E p.780
. . . . . . g.63108
GTTAAAGAGCTCATAAGACAGCAAAATTGGGATTCTCTTATAGCAGGAGATCAACTTATC c.2400
V K E L I R Q Q N W D S L I A G D Q L I p.800
. . | 19 . . . . g.70208
AATCAGAAAAATGCTGGACAG | GTTTTTAGAGGATTTTTAGAAGGAAAGGTAACCTTTGCT c.2460
N Q K N A G Q | V F R G F L E G K V T F A p.820
. . . . . . g.70268
CCGACATATAAGTATGACTTGTTTTCTGACGACTATGACACCAGTGAAAAGTGCCGCACC c.2520
P T Y K Y D L F S D D Y D T S E K C R T p.840
. . . . . | 20 g.70923
CCTGCCTGGACAGACCGTGTCCTTTGGAGAAGGAGGAAATGGCCTTTTGATAGATCAG | CT c.2580
P A W T D R V L W R R R K W P F D R S A | p.860
. . . . . . g.70983
GAAGATCTAGATCTTCTAAATGCTAGTTTTCAAGATGAAAGCAAAATTCTGTACACGTGG c.2640
E D L D L L N A S F Q D E S K I L Y T W p.880
. . . . . | 21 . g.71143
ACTCCAGGCACTTTGCTGCACTATGGAAGAGCTGAGCTGAAGACTTCTGACCACAG | GCCT c.2700
T P G T L L H Y G R A E L K T S D H R | P p.900
. . . . . . g.71203
GTCGTTGCCCTGATTGATATAGATATATTTGAAGTTGAAGCTGAAGAGAGGCAAAACATT c.2760
V V A L I D I D I F E V E A E E R Q N I p.920
. . . . . . g.71263
TATAAAGAAGTAATTGCAGTTCAGGGTCCACCAGATGGTACAGTATTGGTCTCAATCAAA c.2820
Y K E V I A V Q G P P D G T V L V S I K p.940
. . . . . . g.71323
AGTTCTTTACCAGAAAATAATTTTTTTGATGATGCCTTGATTGATGAGCTTCTGCAGCAG c.2880
S S L P E N N F F D D A L I D E L L Q Q p.960
. . . | 22 . . . g.74703
TTTGCAAGTTTTGGTGAAGTTATACTTATAAG | ATTTGTAGAAGATAAAATGTGGGTTACA c.2940
F A S F G E V I L I R | F V E D K M W V T p.980
. . . . . | 23 . g.77704
TTTTTGGAGGGAAGCTCTGCCTTGAATGTTCTGAGCCTAAATGGTAAAGAG | TTATTGAAT c.3000
F L E G S S A L N V L S L N G K E | L L N p.1000
. . . . . . g.77764
CGGACTATAACTATTGCTTTAAAAAGTCCAGACTGGATCAAAAATTTGGAAGAAGAAATG c.3060
R T I T I A L K S P D W I K N L E E E M p.1020
. . . . . . g.77824
AGTTTAGAGAAAATTAGCATTGCATTGCCATCATCAACAAGCTCTACCCTGCTTGGTGAA c.3120
S L E K I S I A L P S S T S S T L L G E p.1040
. . . | 24 . . . g.81465
GATGCAGAGGTTGCAGCAGATTTTGATATGGAAG | GTGATGTTGATGACTATAGTGCTGAA c.3180
D A E V A A D F D M E G | D V D D Y S A E p.1060
. . . . . . g.81525
GTGGAGGAACTTCTTCCTCAGCATCTCCAGCCATCTTCAAGTTCCGGCCTTGGTACTTCC c.3240
V E E L L P Q H L Q P S S S S G L G T S p.1080
. . . . . . g.81585
CCCAGCTCTTCACCCCGAACTAGTCCCTGCCAGTCACCTACAATATCAGAGGGTCCTGTA c.3300
P S S S P R T S P C Q S P T I S E G P V p.1100
. . . . . . g.81645
CCTTCCCTTCCCATCAGACCAAGCCGAGCACCGTCAAGAACTCCTGGGCCTCCCAGTGCA c.3360
P S L P I R P S R A P S R T P G P P S A p.1120
| 25 . . . . . . g.82308
CAGA | GTTCTCCTATTGACGCGCAGCCAGCAACGCCGCTGCCGCAGAAAGACCCCGCCCAG c.3420
Q S | S P I D A Q P A T P L P Q K D P A Q p.1140
. . . . . . g.82368
CCCTTGGAGCCCAAGCGGCCGCCGCCGCCCCGCCCGGTCGCCCCTCCCACACGCCCGGCT c.3480
P L E P K R P P P P R P V A P P T R P A p.1160
. . | 26 . . . g.83067
CCCCCACAGAGACCTCCTCCGCCTTCAG | GGGCTAGGAGTCCTGCACCCACTAGAAAGGAA c.3540
P P Q R P P P P S G | A R S P A P T R K E p.1180
| 27. . . . . | 28 . g.85913
TTTGGAG | GTATTGGAGCCCCTCCCAGTCCTGGGGTAGCTAGGAGAGAGATGGAAG | CACCC c.3600
F G G | I G A P P S P G V A R R E M E A | P p.1200
. . . | 29 . . . g.86101
AAAAGCCCTGGAACAACAAGGAAAGATAATATAG | GACGCAGTCAGCCTTCACCTCAAGCA c.3660
K S P G T T R K D N I G | R S Q P S P Q A p.1220
. . . . | 30 . . g.88277
GGACTTGCAGGCCCAGGACCTGCTGGATACAGTACAGCCAGACCG | ACGATTCCTCCTCGT c.3720
G L A G P G P A G Y S T A R P | T I P P R p.1240
. . . . . . g.88337
GCTGGAGTTATCAGTGCCCCACAGAGCCACGCGCGGGCATCTGCTGGAAGACTGACTCCT c.3780
A G V I S A P Q S H A R A S A G R L T P p.1260
. . . | 31 . . . g.88942
GAAAGCCAAAGCAAAACATCAGAAACGTCGAAAG | GTTCAACTTTCCTTCCTGAACCACTG c.3840
E S Q S K T S E T S K G | S T F L P E P L p.1280
. . . . . . g.89002
AAGCCTCAGGCTGCTTTTCCTCCGCAGTCTTCTTTGCCCCCGCCTGCTCAAAGGTTGCAA c.3900
K P Q A A F P P Q S S L P P P A Q R L Q p.1300
. . . . . . g.89062
GAGCCTCTTGTCCCTGTGGCAGCACCTATGCCTCAGTCTGGCCCCCAGCCAAATTTGGAA c.3960
E P L V P V A A P M P Q S G P Q P N L E p.1320
. . . . . . g.89122
ACCCCACCACAACCACCACCTCGAAGCAGGTCATCCCATAGCTTGCCTTCAGAAGCTTCC c.4020
T P P Q P P P R S R S S H S L P S E A S p.1340
. | 32 . . g.93205
TCACAACCGCAA | CAGGAGCAACCATCAGGGTAA | c.4054
S Q P Q | Q E Q P S G X p.1350
| 33 . . . . . . g.96324
cag | gtaaaaacaaatggaatctctgatggcaaaagagaatcaccattaaagattgaccca c.*60
. . . . . . g.96384
tttgaagatctgtcatttaatctgcttgctgtatcaaaggctcagctatctgttcaaacg c.*120
. . . . . . g.96444
tcacctgttcccaccccagacccaaagaggttgattcagttgccttctgcaacgcaaagt c.*180
. . . . . . g.96504
aatgttttgagttctgtaagttgcatgccaacaatgcctccaattccagctcggagtcaa c.*240
. . . . . . g.96564
tcccaggaaaatatgcgaagttctccaaacccatttattactggcttgaccaggacaaat c.*300
. . . . . . g.96624
cctttcagtgacaggactgctgctcctggaaacccatttagagccaagtctgaagaatca c.*360
. . . . . . g.96684
gaggcaacttcatggttctccaaagaagagcccgttactatcagtcctttcccttctctg c.*420
. . . . . . g.96744
cagcctcttggtcataacaaaagcagggcttcatcttcacttgatggctttaaggacagt c.*480
. . . . . . g.96804
tttgatctacagggccagtctacattaaaaattagcaacccgaaaggatgggtaaccttc c.*540
. . . . . . g.96864
gaggaagaagaggattttggtgtgaaagggaagtcaaagtcagcttgttcagacttactg c.*600
. . . . . . g.96924
ggtaatcagccaagttcattttctggctccaacctgacattgaatgatgactggaataaa c.*660
. . . . . . g.96984
ggtacaaatgtctccttctgtgtgttgccgtcaagaagacctcctccacctcctgtccct c.*720
. . . . . . g.97044
ctgctcccgcccggcaccagccctccagtagatcctttcacgaccttggcctctaaggct c.*780
. . . . . . g.97104
tcacccacactggactttacagaaagataacgccatgcaatagaaaacagtgggtacttg c.*840
. . . . . . g.97164
cttttggcaggatagagctaagagaattgggcattagtatttcattatgtgcaataagtc c.*900
. . . . . . g.97224
attgtaagtgcactgatatcttcacaaaacaccactatttgatgtgtacagagttggact c.*960
. . . . . . g.97284
atgtgtatattggaaataaggaaaaacccttctcattgttaactggagttttgatgtatt c.*1020
. . . . . . g.97344
tctctttggatgaataggagacagtagtagccataaaaagtacttatactttagaaaaca c.*1080
. . . . . . g.97404
gtccttattcagaaacttttcggtcagtcttctgaagaatctcaaaaagcccacccaact c.*1140
. . . . . . g.97464
ttcagctgacatttccaccagccctctcatacttgttaacaattggtatctttgagtatt c.*1200
. . . . . . g.97524
taccaaagagctgccaaggttacagtgaacagagttttgaaaggcattgctttaaaggaa c.*1260
. . . . . . g.97584
aaaagtataggtatgtgtacatatataatacatacaaacacatgtacttctgtatacatt c.*1320
. . . . . . g.97644
tacatatttttacaattcatactttaatttctaggctataactcagaccaaattatacct c.*1380
. . . . . . g.97704
aaaagttccaacaaagtccctttttcaatatcacattaccaaaaagatggctgcaaatgt c.*1440
. . . . . . g.97764
aatttggacctttcattaattttgttttcaaaactagaataatctcaccacagaatcaga c.*1500
. . . . . . g.97824
attttctaccgttccacacccaaccccttcaaatacacacaaccttgttacttttcactc c.*1560
. . . . . . g.97884
cagcaccttcatacgcttttctccaggaggaggttcttgcagctggaaacagcctatttt c.*1620
. . . . . . g.97944
gtggtcactgtcaagtggatggatattctagcgctcccaaaaaagcactatggccttata c.*1680
. . . . . . g.98004
tgcagggaaggcacataccaccaagttcaatgagaaatattagagctaaccgtactctct c.*1740
. . . . . . g.98064
tctctgcgtacgttcgagtatacgttgcccatatccctcccatattttctttttgctgct c.*1800
. . . . . . g.98124
tttgctctggaactttgcttttagcagggaaagcagctgtcccctgagtgctttgaattg c.*1860
. . . . . . g.98184
ggaatatacccagtgtgtgttctcccccctcttacgaggctacataacacatctatgatg c.*1920
. . . . . . g.98244
ctgctttaagtttttagaggctatacctcaaagtagctgcggattttgtctcctgcactg c.*1980
. . . . . . g.98304
ccaatatgcaactgatcccgcttttattaattttttgaagaagtacacagaatttttaca c.*2040
. . . . . . g.98364
gaatgtagtattttgatatcattaagtaaaccaatcagaaaactccttgagcaatagttg c.*2100
. . . . . . g.98424
tttctttgtcagtttcagttacaatcatctttacccattaagacttacattaacattcct c.*2160
. . . . . . g.98484
tttatataaagagttgtatatgtccacctaaattcctatgtccacacttaacctttaaag c.*2220
. . . . . . g.98544
atgtacattgagggaatatcaaaaaatagcgttcatggctacgaatatgtagaatgttaa c.*2280
. . . . . . g.98604
aagcacagcaaactgcactgcacttataaagcaaatctattagaaaaaaagcatttttct c.*2340
. . . . . . g.98664
aaatgctcaaatgttatcaaaatactatatttatagaagtaatcttctctgttaacagcc c.*2400
. . . . . . g.98724
aagatttgctgttagaaataactcttgtgagttttatattgtgctttttggaggttctaa c.*2460
. . . . . . g.98784
tcatttcagcagtagcgtcttaaacagcagtattactataagcagttgcttcaaaatgtg c.*2520
. . . . . . g.98844
aattaacttgttgaaactgtggctttaacatccatgtgactagtgtatatggtatttgct c.*2580
. . . . . . g.98904
ctccattagcaaaataattcattgttaggtaaacttcactagtgcaaattgcagatctgt c.*2640
. . . . . . g.98964
gagcaatgtttcctattgaatataaactactgtctaaaatatacatatcagcagcccagc c.*2700
. . . . . . g.99024
ctttatcaggaaaattatacttggcaagttgctgaaaatgcacaaagttatgaaagttaa c.*2760
. . . . . . g.99084
aggtatgctgcaaataactagccattattctatgtattattaaatatttactagttctgt c.*2820
. . . . . . g.99144
taaaagcagagcagaagttagacactaaggatctctttgtgaactctgtgttctctatat c.*2880
. . . . . . g.99204
tagattgctgtttatatgtaagaattttattgcttatgtggcatacaatatttataacta c.*2940
. . . . . . g.99264
taaactttatagaagtacagtattaaagtcagtggtacacagacattctgtacatatcct c.*3000
. . . . g.99310
gtgaaacgtgctgtcatatgaaataaatatatctgtctttaccatg c.*3046
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2022 Leiden University Medical Center