(used for variant description)
(last modified March 23, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001039876.1 in the SYNE4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering SYNE4 transcript NM_001039876.1.
(upstream sequence)
. . g.5029
tccagcggaggagctctgggacacccttg c.-61
. . . . . . g.5089
tctagggaagaggtcttactggctgccctcacctgactttgtgtccccaggcccccagcc c.-1
. . . . . . g.5149
ATGGCCCTGTCCCTGCCTCTGGGCCCTAGACTTGGCTCAGAGCCCCTCAACCACCCACCG c.60
M A L S L P L G P R L G S E P L N H P P p.20
. . . . . . g.5209
GGAGCACCTAGAGAGGCGGACATTGTTGGATGCACCGTCTGCCCCGCGTCCGGAGAGGAG c.120
G A P R E A D I V G C T V C P A S G E E p.40
| 02 . . . . . g.5455
AGCACGAG | CCCAGAGCAGGCCCAGACCCTGGGACAGGACTCCTTGGGCCCTCCTGAGCAC c.180
S T S | P E Q A Q T L G Q D S L G P P E H p.60
. . . . . . g.5515
TTCCAGGGTGGGCCAAGGGGCAATGAGCCTGCCGCTCACCCCCCGAGATGGTCAACACCC c.240
F Q G G P R G N E P A A H P P R W S T P p.80
. . . | 03 . . g.6523
TCTTCCTACGAGGACCCAGCTGGGGGCAAACACTGTGAG | CACCCCATTTCTGGCCTGGAG c.300
S S Y E D P A G G K H C E | H P I S G L E p.100
. . . . . . g.6583
GTACTAGAGGCTGAGCAGAACAGCCTGCACCTGTGCCTGCTGGGGCTGGGCCGCCGGCTG c.360
V L E A E Q N S L H L C L L G L G R R L p.120
. . . . . . g.6643
CAGGACCTGGAGCAAGGCCTGGGGCACTGGGCATTGGCCCAGAGTGGGATGGTGCAGCTG c.420
Q D L E Q G L G H W A L A Q S G M V Q L p.140
| 04 . . . . . . g.6883
CAG | GCCCTCCAGGTGGACCTACGAGGGGCAGCTGAGCGTGTGGAGGCGCTGCTAGCGTTT c.480
Q | A L Q V D L R G A A E R V E A L L A F p.160
. . . . . . g.6943
GGTGAGGGGCTGGCACAGCGGAGTGAGCCCAGGGCCTGGGCAGCCCTGGAGCAGATCCTG c.540
G E G L A Q R S E P R A W A A L E Q I L p.180
. . . . . . g.7003
CGGGCCCTGGGAGCTTACCGAGACTCCATCTTCCGGCGGCTCTGGCAGCTGCAGGCCCAG c.600
R A L G A Y R D S I F R R L W Q L Q A Q p.200
. | 05 . . . . g.7141
CTGGTCAGCTACAGCCTG | GTGTTCGAGGAGGCCAACACGCTGGACCAGGACTTGGAGGTC c.660
L V S Y S L | V F E E A N T L D Q D L E V p.220
. . . . . . g.7201
GAGGGAGACTCGGACTGGCCAGGACCTGGTGGGGTCTGGGGGCCCTGGGCACCCAGTAGC c.720
E G D S D W P G P G G V W G P W A P S S p.240
. . . . . . g.7261
CTCCCCACTTCCACAGAGTTGGAGTGGGATCCGGCGGGGGACATTGGGGGCCTTGGGCCC c.780
L P T S T E L E W D P A G D I G G L G P p.260
. . . . . . g.7321
TTGGGACAAAAGACAGCCCGGACACTAGGAGTGCCCTGTGAGCTGTGTGGCCAGAGGGGG c.840
L G Q K T A R T L G V P C E L C G Q R G p.280
. . | 06. . . . g.8366
CCCCAGGGCAGGGGACAAGGCCTTGAG | GAAGCAGACACCTCTCACTCCCGACAGGACATG c.900
P Q G R G Q G L E | E A D T S H S R Q D M p.300
. . . . . . g.8426
CTGGAGTCTGGCCTCGGCCACCAGAAACGCTTAGCACGTCACCAAAGACACTCCCTGCTC c.960
L E S G L G H Q K R L A R H Q R H S L L p.320
. | 07 . . . . . g.10147
CGGAAGCCTCAG | GACAAGAAGAGGCAAGCATCTCCTCATCTCCAGGATGTGAGGCTGGAG c.1020
R K P Q | D K K R Q A S P H L Q D V R L E p.340
. | 08 . . . . . g.10299
GGGAATCCAGG | GGCCCCCGATCCTGCATCCAGGCAGCCTCTGACCTTCCTCCTTATCCTC c.1080
G N P G | A P D P A S R Q P L T F L L I L p.360
. . . . . . g.10359
TTCCTCCTCTTCCTCCTCCTGGTGGGTGCCATGTTTCTCCTGCCCGCGTCAGGAGGCCCC c.1140
F L L F L L L V G A M F L L P A S G G P p.380
. . . . . . g.10419
TGCTGCTCTCATGCCCGAATACCCAGGACACCCTACCTGGTGCTCAGCTATGTCAATGGT c.1200
C C S H A R I P R T P Y L V L S Y V N G p.400
. g.10434
CTTCCCCCAGTCTGA c.1215
L P P V X p.404
. . . . . . g.10494
tgtgtgtaataaatggtcactgtcaaaggatgtgtgaagatactaggtgccttcataccc c.*60
. . . . . . g.10554
ggaatctaggatgtggcctggatatgtctggatggacccttttgccttgagaacagaata c.*120
. . . . . . g.10614
cagaactgcatcagcccatcttgggtggggctgccccagaccctgacacaaagagtcaag c.*180
. . . . . g.10671
caccagttctttatttaggcgtggcaggggagccaggacgtgagctcaggaagggag c.*237
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 14c
©2004-2016 Leiden University Medical Center