(used for variant description)
(last modified February 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001270408.1 in the JAM2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering JAM2 transcript NM_001270408.1.
(upstream sequence)
. . . . . . g.5060
gggaagaaaggagttggggcaaaacaggaggcgtttccctacccgcatacatccccgtcc c.-481
. . . . . . g.5120
ccgagacacccaatccccccacccccagcctgcccgcgcctcccgcccccagctcctcgc c.-421
. . . . . . g.5180
cctggggacagctggcagccccgcgcggaccagacacaaagccgatcaatcccggaggcg c.-361
. . . . . . g.5240
tgggggcggagggacgacccgccggggctttcccgggcgctgctctcctcctgctgcccc c.-301
. . . . . . g.5300
ctcgctaggacccggcggacgcctcgtctggttttcacgccctctagcccctacccccac c.-241
. . . . . . g.5360
acccccaaaacagaacagacccccatccctgggctggaggacccgcctcttggcagccag c.-181
. . . . . . g.5420
ctgagaaggcgccccggggagggggaaactgacatcccatctagagccgtccctcctctt c.-121
. . . . . . g.5480
cctcccctcccgactctctgctcctttcccgccccagaagttcaagggcccccggcctcc c.-61
. . . . . . g.5540
tgcgctcctgccgccgggaccctcgacctcctcagagcagccggctgccgccccgggaag c.-1
. . . . . . g.5600
ATGGCGAGGAGGAGCCGCCACCGCCTCCTCCTGCTGCTGCTGCGCTACCTGGTGGTCGCC c.60
M A R R S R H R L L L L L L R Y L V V A p.20
| 02. . . . . . g.49654
CTGGGCT | ATCATAAGGCCTATGGGTTTTCTGCCCCAAAAGACCAACAAGTAGTCACAGCA c.120
L G Y | H K A Y G F S A P K D Q Q V V T A p.40
. | 03 . . . . . g.55631
GTAGAGTACCAAG | AGGCTATTTTAGCCTGCAAAACCCCAAAGAAGACTGTTTCCTCCAGA c.180
V E Y Q E | A I L A C K T P K K T V S S R p.60
. . . . . . g.55691
TTAGAGTGGAAGAAACTGGGTCGGAGTGTCTCCTTTGTCTACTATCAACAGACTCTTCAA c.240
L E W K K L G R S V S F V Y Y Q Q T L Q p.80
| 04 . . . . . . g.59533
G | GTGATTTTAAAAATCGAGCTGAGATGATAGATTTCAATATCCGGATCAAAAATGTGACA c.300
G | D F K N R A E M I D F N I R I K N V T p.100
. . . . . . g.59593
AGAAGTGATGCGGGGAAATATCGTTGTGAAGTTAGTGCCCCATCTGAGCAAGGCCAAAAC c.360
R S D A G K Y R C E V S A P S E Q G Q N p.120
. . . | 05 . . . g.64421
CTGGAAGAGGATACAGTCACTCTGGAAGTATTAG | TGGCTCCAGCAGTTCCATCATGTGAA c.420
L E E D T V T L E V L V | A P A V P S C E p.140
. . . . . . g.64481
GTACCCTCTTCTGCTCTGAGTGGAACTGTGGTAGAGCTACGATGTCAAGACAAAGAAGGG c.480
V P S S A L S G T V V E L R C Q D K E G p.160
. . . . . . g.64541
AATCCAGCTCCTGAATACACATGGTTTAAGGATGGCATCCGTTTGCTAGAAAATCCCAGA c.540
N P A P E Y T W F K D G I R L L E N P R p.180
. . . . . | 06. g.67891
CTTGGCTCCCAAAGCACCAACAGCTCATACACAATGAATACAAAAACTGGAACTCTG | CAA c.600
L G S Q S T N S S Y T M N T K T G T L | Q p.200
. . . . . . g.67951
TTTAATACTGTTTCCAAACTGGACACTGGAGAATATTCCTGTGAAGCCCGCAATTCTGTT c.660
F N T V S K L D T G E Y S C E A R N S V p.220
. . . | 07. . . g.71720
GGATATCGCAGGTGTCCTGGGAAACGAATGCAAGTAG | ATGATCTCAACATAAGTGGCATC c.720
G Y R R C P G K R M Q V D | D L N I S G I p.240
. . . . . . g.71780
ATAGCAGCCGTAGTAGTTGTGGCCTTAGTGATTTCCGTTTGTGGCCTTGGTGTATGCTAT c.780
I A A V V V V A L V I S V C G L G V C Y p.260
. . | 08 . . | 09 . . g.78077
GCTCAGAGGAAAGGCTACTTTTCAA | AAGAAACCTCCTTCCA | GAAGAGTAATTCTTCATCT c.840
A Q R K G Y F S K | E T S F Q | K S N S S S p.280
. . | 10 . . . . g.79985
AAAGCCACGACAATGAGTGAAAAT | GTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGG c.900
K A T T M S E N | V Q W L T P V I P A L W p.300
. . . g.80024
AAGGCCGCGGCGGGCGGATCACGAGGTCAGGAGTTCTAG c.939
K A A A G G S R G Q E F X p.312
. . . . . . g.80084
accagtctggccaatatggtgaaaccccatctctactaaaatacaaaaattagctgggca c.*60
. . . . . . g.80144
tggtggcatgtgcctgcagttccagctgcttgggagacaggagaatcacttgaacccggg c.*120
. . . . . . g.80204
aggcggaggttgcagtgagctgagatcacgccactgcagtccagcctgggtaacagagca c.*180
. . . . . . g.80264
agattccatctcaaaaaataaaataaataaataaataaatactggtttttacctgtagaa c.*240
. . g.80292
ttcttacaataaatatagcttgatattc c.*268
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 22
©2004-2020 Leiden University Medical Center