(used for variant description)
(last modified May 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_007208.3 in the MRPL3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029207.1, covering MRPL3 transcript NM_007208.3.
(upstream sequence)
. g.5015
attgtaaaacgcacc c.-181
. . . . . . g.5075
ggaagtgggtccggcggctttctttccgtcgcagagagcatcggccggcgaccgttccgg c.-121
. . . . . . g.5135
cggccattgcgaaaacttccccacggctactgcgtccacgtggcggtggcgtggggactc c.-61
. . . . . . g.5195
cctgaaagcagagcggcagggcgcccggaagtcgtgagtcgagtcttcccgggctaatcc c.-1
. . . . . . g.5255
ATGCCGGGTTGGAGGCTGCTGACGCAGGTCGGCGCCCAGGTGCTGGGTCGACTCGGGGAC c.60
M P G W R L L T Q V G A Q V L G R L G D p.20
. . . | 02 . . . g.6329
GGCCTGGGTGCTGCCCTGGGCCCGGGGAACAG | AACACACATCTGGCTTTTTGTTAGAGGT c.120
G L G A A L G P G N R | T H I W L F V R G p.40
. . . . . . g.6389
CTTCATGGAAAGAGTGGTACATGGTGGGATGAGCATCTTTCTGAAGAAAATGTCCCATTC c.180
L H G K S G T W W D E H L S E E N V P F p.60
. . . . . . g.6449
ATTAAGCAGTTGGTCTCTGATGAAGATAAAGCCCAATTAGCAAGTAAACTGTGTCCTCTG c.240
I K Q L V S D E D K A Q L A S K L C P L p.80
. . . | 03. . . g.7518
AAAGATGAACCATGGCCTATACATCCTTGGGAACCAG | GTTCCTTTAGAGTTGGTCTTATT c.300
K D E P W P I H P W E P G | S F R V G L I p.100
. . . . . . g.7578
GCCTTGAAGCTGGGCATGATGCCTTTATGGACCAAGGATGGTCAAAAGCATGTGGTCACA c.360
A L K L G M M P L W T K D G Q K H V V T p.120
| 04 . . . . . g.9790
TTACTTCAG | GTACAAGACTGTCATGTCTTAAAATATACGTCAAAGGAAAACTGTAATGGA c.420
L L Q | V Q D C H V L K Y T S K E N C N G p.140
. . . . | 05 . g.17948
AAAATGGCAACCCTGTCTGTAGGAGGAAAAACTGTATCACGTTTTCGT | AAAGCTACATCC c.480
K M A T L S V G G K T V S R F R | K A T S p.160
. . . . . . g.18008
ATATTGGAATTTTACCGGGAACTTGGATTGCCGCCGAAACAGACAGTTAAAATCTTTAAT c.540
I L E F Y R E L G L P P K Q T V K I F N p.180
. . | 06 . . . g.20308
ATAACAGATAATGCTGCAATTAAACCAG | GCACTCCTCTTTATGCTGCTCACTTTCGTCCA c.600
I T D N A A I K P G | T P L Y A A H F R P p.200
. . | 07 . . . g.36768
GGACAGTATGTGGATGTCACAGCCAAAAC | TATTGGTAAAGGTTTTCAAGGTGTCATGAAA c.660
G Q Y V D V T A K T | I G K G F Q G V M K p.220
. . . . . . g.36828
AGATGGGGATTTAAAGGCCAGCCTGCTACGCATGGTCAAACGAAAACCCACAGGAGACCT c.720
R W G F K G Q P A T H G Q T K T H R R P p.240
. | 08 . . . . g.38285
GGAGCTGTTGCAACTGGT | GATATTGGCAGAGTCTGGCCTGGAACTAAAATGCCTGGAAAA c.780
G A V A T G | D I G R V W P G T K M P G K p.260
. . . | 09 . . . g.39872
ATGGGAAACATATACAGGACAGAATATGGACTGAAA | GTGTGGAGAATAAACACAAAGCAC c.840
M G N I Y R T E Y G L K | V W R I N T K H p.280
. . . . . | 10 . g.45147
AACATAATCTATGTAAATGGCTCTGTACCTGGACATAAAAATTGCTTAGTAAAG | GTCAAA c.900
N I I Y V N G S V P G H K N C L V K | V K p.300
. . . . . . g.45207
GATTCTAAACTGCCTGCATATAAGGATCTCGGTAAAAATCTACCATTCCCTACATATTTT c.960
D S K L P A Y K D L G K N L P F P T Y F p.320
. . . . . . g.45267
CCTGATGGAGATGAAGAGGAACTGCCAGAAGATTTGTATGATGAAAACGTGTGTCAGCCC c.1020
P D G D E E E L P E D L Y D E N V C Q P p.340
. . g.45294
GGTGCGCCTTCTATTACATTTGCCTAA c.1047
G A P S I T F A X p.348
. . . . . . g.45354
catctttggacgtggcagaaccttacatattctgtgagcttcgatgagccagagtgatat c.*60
. . . . . . g.45414
cataaccaccagaaatcatactctcctttcttagtcacaacaaaatcacacatgtcatct c.*120
. . . . . . g.45474
ttgtcaagggcataaatatatcattcatacccccattaaattttgttagaaaaattacca c.*180
. . . . . . g.45534
cattaaatatatgagttaagtagattggatttgctgaaattggtgttgggcatattagca c.*240
. . . . . . g.45594
aaatattcttaatttgtggactcgattcttttttactacatatttcccaagttatcttaa c.*300
. . . . . . g.45654
gatgtctgtaaatttaacttttattaaagttttgtcaatctttgtgaaatagtggttgtg c.*360
. . . . . . g.45714
gaacagtagaaaaccatatggggactatagtgcaacctatttgggtaaagaaaccatttg c.*420
. . . . . . g.45774
ctaaaatggagaaagtaaatagatttttatttaaattacagaaacatgttaaaggccgga c.*480
. . . . g.45816
caaaggaaagacaataaaatcataaattatcggtcctgttta c.*522
(downstream sequence)
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