(used for mutation description)
(last modified May 24, 2013)
This file was created to facilitate the description of sequence variants in the TMEM5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033244.1, covering TMEM5 transcript NM_014254.2.
(upstream sequence)
. . . g.5038
gcgtgtccggggcggggctgtaccgggcgctgggcgga c.-121
. . . . . . g.5098
ggagccttggctggggactgcctggaaacgggctgggcctgcctcggacgccgccggtgt c.-61
. . . . . . g.5158
cgcggattctctttccgcccgctccatggcggtggatgcctgactggaagcccgagtggg c.-1
. . . . . . g.5218
ATGCGGCTGACGCGGAAGCGGCTCTGCTCGTTTCTTATCGCCCTGTACTGCCTATTCTCC c.60
M R L T R K R L C S F L I A L Y C L F S p.20
. . . . . . g.5278
CTCTACGCTGCCTACCACGTCTTCTTCGGGCGCCGCCGCCAGGCGCCGGCCGGGTCCCCG c.120
L Y A A Y H V F F G R R R Q A P A G S P p.40
. . . . | 02 . g.6227
CGGGGCCTCAGGAAGGGGGCGGCCCCCGCGCGGGAGAGACGCGGCCGAG | AACAGTCCACT c.180
R G L R K G A A P A R E R R G R E | Q S T p.60
. . . . . . g.6287
TTGGAAAGTGAAGAATGGAATCCTTGGGAAGGAGATGAAAAAAATGAGCAACAACACAGA c.240
L E S E E W N P W E G D E K N E Q Q H R p.80
. . . . . . g.6347
TTTAAAACTAGCCTTCAAATATTAGATAAATCCACGAAAGGAAAAACAGATCTCAGTGTA c.300
F K T S L Q I L D K S T K G K T D L S V p.100
. . | 03 . . . . g.10202
CAAATCTGGGGCAAAGCTGCCATTG | GCTTGTATCTCTGGGAGCATATTTTTGAAGGCTTA c.360
Q I W G K A A I G | L Y L W E H I F E G L p.120
. . . . . . g.10262
CTTGATCCCAGCGATGTGACTGCTCAATGGAGAGAAGGAAAGTCAATCGTAGGAAGAACA c.420
L D P S D V T A Q W R E G K S I V G R T p.140
| 04 . . . . . g.27340
CAGTACAG | CTTCATCACTGGTCCAGCTGTAATACCAGGGTACTTCTCCGTTGATGTGAAT c.480
Q Y S | F I T G P A V I P G Y F S V D V N p.160
. . . . . . g.27400
AATGTGGTACTCATTTTAAATGGAAGAGAAAAAGCAAAGATCTTTTATGCCACCCAGTGG c.540
N V V L I L N G R E K A K I F Y A T Q W p.180
. . . . . . g.27460
TTACTTTATGCACAAAATTTAGTGCAAATTCAAAAACTCCAGCATCTTGCTGTTGTTTTG c.600
L L Y A Q N L V Q I Q K L Q H L A V V L p.200
. . . . . . g.27520
CTCGGAAATGAACATTGTGATAATGAGTGGATAAACCCATTCCTCAAAAGAAATGGAGGC c.660
L G N E H C D N E W I N P F L K R N G G p.220
. . . . . . g.27580
TTCGTGGAGCTGCTTTTCATAATATATGACAGCCCCTGGATTAATGACGTGGATGTTTTT c.720
F V E L L F I I Y D S P W I N D V D V F p.240
. . | 05 . . . . g.30468
CAGTGGCCTTTAGGAGTAGCAAC | ATACAGGAATTTTCCTGTGGTGGAGGCAAGTTGGTCA c.780
Q W P L G V A T | Y R N F P V V E A S W S p.260
. . . . . . g.30528
ATGCTGCATGATGAGAGGCCATATTTATGTAATTTCTTAGGAACGATTTATGAAAATTCA c.840
M L H D E R P Y L C N F L G T I Y E N S p.280
. . . . . . g.30588
TCCAGACAGGCACTAATGAACATTTTGAAAAAAGATGGGAACGATAAGCTTTGTTGGGTT c.900
S R Q A L M N I L K K D G N D K L C W V p.300
. | 06 . . . . . g.33918
TCAGCAAGAGAACA | CTGGCAGCCTCAGGAAACAAATGAAAGTCTTAAGAATTACCAAGAT c.960
S A R E H | W Q P Q E T N E S L K N Y Q D p.320
. . . . . . g.33978
GCCTTGCTTCAGAGTGATCTCACATTGTGCCCGGTCGGAGTAAACACAGAATGCTATCGA c.1020
A L L Q S D L T L C P V G V N T E C Y R p.340
. . . . . . g.34038
ATCTATGAGGCTTGCTCCTATGGCTCCATTCCTGTGGTGGAAGACGTGATGACAGCTGGC c.1080
I Y E A C S Y G S I P V V E D V M T A G p.360
. . . . . . g.34098
AACTGTGGGAATACATCTGTGCACCACGGTGCTCCTCTGCAGTTACTCAAGTCCATGGGT c.1140
N C G N T S V H H G A P L Q L L K S M G p.380
. . . . . . g.34158
GCTCCCTTTATCTTTATCAAGAACTGGAAGGAACTCCCTGCTGTTTTAGAAAAAGAGAAA c.1200
A P F I F I K N W K E L P A V L E K E K p.400
. . . . . . g.34218
ACTATAATTTTACAAGAAAAAATTGAAAGAAGAAAAATGTTACTTCAGTGGTATCAGCAC c.1260
T I I L Q E K I E R R K M L L Q W Y Q H p.420
. . . . . . g.34278
TTCAAGACAGAGCTTAAAATGAAATTTACTAATATTTTAGAAAGCTCATTTTTAATGAAT c.1320
F K T E L K M K F T N I L E S S F L M N p.440
. g.34290
AATAAAAGTTAA c.1332
N K S X p.443
. . . . . . g.34350
ttatctttttgagctaacatgtgatttttaaaatcattttgactactgggtgtataaatg c.*60
. . . . . . g.34410
tgtttgtgtgtgtatgtatttatagatgttctttaaggtacccttgaaaactctacatta c.*120
. . . . . . g.34470
tgtatgccacataatgacatttcagtcagtggtagactacatatatgatagtggtcccat c.*180
. . . . . . g.34530
aagattataatggagctgaaaaatttctatcgcctagtgatgtcatagcctagtgatgac c.*240
. . . . . . g.34590
atatgtattgcaatacatcactcacgtgtttgtggtgatactggtgtaaacaaatctatt c.*300
. . . . . . g.34650
gcactgccagtcaagtaaaagtacagcaattatgtcctgtacataatatttaataatgac c.*360
. . . . . . g.34710
aataaatgactatgttactggtttatgtatttactatactatactttttacaatttgtat c.*420
. . . . g.34756
tagttcttgcattgctatgaataaatgcctgagattgagtaattta c.*466
(downstream sequence)
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