(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the MLPH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering MLPH transcript NM_024101.6.
(upstream sequence)
g.1812
gtg c.-241
. . . . . . g.1872
gttcgggcgggaggcgccgggacgtggccagttgcccgcctgccccggagagccaggcgc c.-181
. . . . . . g.1932
taaccagccgctctgcgccccgcgccctgcttgcccccattatccagccttgccccggcg c.-121
. . . . . . g.1992
ccctgacctgacgccctggcctgacgccctgcttcgtcgcctcctttctctcccaggtgc c.-61
. . . . | 02 . . g.8017
tggaccagggactgagcgtcccccggagagggtccg | gtgtgaccccgacaagaagcagaa c.-1
. . . . . . g.8077
ATGGGGAAGAAACTGGATCTTTCCAAGCTCACTGATGAAGAGGCCCAGCATGTCTTGGAA c.60
M G K K L D L S K L T D E E A Q H V L E p.20
. . . . . | 03 . g.25174
GTTGTTCAACGAGATTTTGACCTCCGAAGGAAAGAAGAGGAACGGCTAGA | GGCGTTGAAG c.120
V V Q R D F D L R R K E E E R L E | A L K p.40
. . . . . . g.25234
GGCAAGATTAAGAAGGAAAGCTCCAAGAGGGAGCTGCTTTCCGACACTGCCCATCTGAAC c.180
G K I K K E S S K R E L L S D T A H L N p.60
. . . . . . g.25294
GAGACCCACTGCGCCCGCTGCCTGCAGCCCTACCAGCTGCTTGTGAATAGCAAAAGGCAG c.240
E T H C A R C L Q P Y Q L L V N S K R Q p.80
. . . . . . g.25354
TGCCTGGAATGTGGCCTCTTCACCTGCAAAAGCTGTGGCCGCGTCCACCCGGAGGAGCAG c.300
C L E C G L F T C K S C G R V H P E E Q p.100
. . . | 04 . . . g.25607
GGCTGGATCTGTGACCCCTGCCATCTGGCCAG | AGTCGTGAAGATCGGCTCACTGGAGTGG c.360
G W I C D P C H L A R | V V K I G S L E W p.120
. . . . . . g.25667
TACTATGAGCATGTGAAAGCCCGCTTCAAGAGGTTCGGAAGTGCCAAGGTCATCCGGTCC c.420
Y Y E H V K A R F K R F G S A K V I R S p.140
. . | 05 . . . . g.33164
CTCCACGGGCGGCTGCAGGGTGGAG | CTGGGCCTGAACTGATATCTGAAGAGAGAAGTGGA c.480
L H G R L Q G G A | G P E L I S E E R S G p.160
. . . . . . g.33224
GACAGCGACCAGACAGATGAGGATGGAGAACCTGGCTCAGAGGCCCAGGCCCAGGCCCAG c.540
D S D Q T D E D G E P G S E A Q A Q A Q p.180
. | 06 . . . . . g.34545
CCCTTTGGCAGCAAA | AAAAAGCGCCTCCTCTCCGTCCACGACTTCGACTTCGAGGGAGAC c.600
P F G S K | K K R L L S V H D F D F E G D p.200
. . . . . . g.34605
TCAGATGACTCCACTCAGCCTCAAGGTCACTCCCTGCACCTGTCCTCAGTCCCTGAGGCC c.660
S D D S T Q P Q G H S L H L S S V P E A p.220
. | 07 . . . . . g.40236
AGGGACAGCCCACAG | TCCCTCACAGATGAGTCCTGCTCAGAGAAGGCAGCCCCTCACAAG c.720
R D S P Q | S L T D E S C S E K A A P H K p.240
. . . . . . g.40296
GCTGAGGGCCTGGAGGAGGCTGATACTGGGGCCTCTGGGTGCCACTCCCATCCGGAAGAG c.780
A E G L E E A D T G A S G C H S H P E E p.260
. . . . . . g.40356
CAGCCGACCAGCATCTCACCTTCCAGACACGGCGCCCTGGCTGAGCTCTGCCCGCCTGGA c.840
Q P T S I S P S R H G A L A E L C P P G p.280
. . . . | 08 . . g.41987
GGCTCCCACAGGATGGCCCTGGGGACTGCTGCTGCACTCG | GGTCGAATGTCATCAGGAAT c.900
G S H R M A L G T A A A L G | S N V I R N p.300
. . . . . . g.42047
GAGCAGCTGCCCCTGCAGTACTTGGCCGATGTGGACACCTCTGATGAGGAAAGCATCCGG c.960
E Q L P L Q Y L A D V D T S D E E S I R p.320
. . . . . . g.42107
GCTCACGTGATGGCCTCCCACCATTCCAAGCGGAGAGGCCGGGCGTCTTCTGAGAGTCAG c.1020
A H V M A S H H S K R R G R A S S E S Q p.340
| 09 . . . . . . g.49214
| ATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAAC c.1080
| I F E L N K H I S A V E C L L T Y L E N p.360
. . | 10 . . . . g.54974
ACAGTTGTGCCTCCCTTGGCCAAG | GGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTA c.1140
T V V P P L A K | G L G A G V R T E A D V p.380
. . . . . . g.55034
GAGGAGGAGGCCCTGAGGAGGAAGCTGGAGGAGCTGACCAGCAACGTCAGTGACCAGGAG c.1200
E E E A L R R K L E E L T S N V S D Q E p.400
. . . . . . g.55094
ACCTCGTCCGAGGAGGAGGAAGCCAAGGACGAAAAGGCAGAGCCCAACAGGGACAAATCA c.1260
T S S E E E E A K D E K A E P N R D K S p.420
. . . | 11 . . . g.55422
GTTGGGCCTCTCCCCCAGGCGGACCCGGAG | GTGGGCACGGCTGCCCATCAAACCAACAGA c.1320
V G P L P Q A D P E | V G T A A H Q T N R p.440
. . . . . . g.55482
CAGGAAAAAAGCCCCCAGGACCCTGGGGACCCCGTCCAGTACAACAGGACCACAGATGAG c.1380
Q E K S P Q D P G D P V Q Y N R T T D E p.460
. . . . . . g.55542
GAGCTGTCAGAGCTGGAGGACAGAGTGGCAGTGACGGCCTCAGAAGTCCAGCAGGCAGAG c.1440
E L S E L E D R V A V T A S E V Q Q A E p.480
| 12 . . . . . . g.57211
AGCGAG | GTTTCAGACATTGAATCCAGGATTGCAGCCCTGAGGGCCGCAGGGCTCACGGTG c.1500
S E | V S D I E S R I A A L R A A G L T V p.500
. . . | 13 . . g.61217
AAGCCCTCGGGAAAGCCCCGGAGGAAGTCAAACCTCCCG | ATATTTCTCCCTCGAGTGGCT c.1560
K P S G K P R R K S N L P | I F L P R V A p.520
. . . . . | 14. g.63814
GGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAG | GCA c.1620
G K L G K R P E D P N A D P S S E A K | A p.540
. . . . . | 15 . g.66932
ATGGCTGTGCCCTATCTTCTGAGAAGAAAGTTCAGTAATTCCCTGAAAAGTCAAG | GTAAA c.1680
M A V P Y L L R R K F S N S L K S Q G | K p.560
. . . . . . g.66992
GATGATGATTCTTTTGATCGGAAATCAGTGTACCGAGGCTCGCTGACACAGAGAAACCCC c.1740
D D D S F D R K S V Y R G S L T Q R N P p.580
. . . | 16 . . . g.68180
AACGCGAGGAAAGGAATGGCCAGCCACACCTTCGCG | AAACCTGTGGTGGCCCACCAGTCC c.1800
N A R K G M A S H T F A | K P V V A H Q S p.600
g.68183
TAA c.1803
X p.600
. . . . . . g.68243
cgggacaggacagagagacagagcagccctgcactgttttccctccaccacagccatcct c.*60
. . . . . . g.68303
gtccctcattggctctgtgctttccactatacacagtcaccgtcccaatgagaaacaaga c.*120
. . . . . . g.68363
aggagcaccctccacatggactcccacctgcaagtggacagcgacattcagtcctgcact c.*180
. . . . . . g.68423
gctcacctgggtttactgatgactcctggctgccccaccatcctctctgatctgtgagaa c.*240
. . . . . . g.68483
acagctaagctgctgtgacttccctttaggacaatgttgtgtaaatctttgaaggacaca c.*300
. . . . . . g.68543
ccgaagacctttatactgtgatcttttacccctttcactcttggctttcttatgttgctt c.*360
. . . . . . g.68603
tcatgaatggaatggaaaaaagatgactcagttaaggcaccagccatatgtgtattcttg c.*420
. . . . . . g.68663
atggtctatatcggggtgtgagcagatgtttgcgtatttcttgtgggtgtgactggatat c.*480
. . . . . . g.68723
tagacatccggacaagtgactgaactaatgatctgctgaataatgaaggaggaatagaca c.*540
. . . . . . g.68783
ccccagtccccaccctacgtgcacccgctctgcaagttcccatgtgatctgtagaccagg c.*600
. . . . . . g.68843
ggaaattacactgcggtcaagggcagagcctgcacatgacagcaagtgagcatttgatag c.*660
. . . . . . g.68903
atgctcagatgctagtgcagagagcctgctgggagacgaagagacagcaggcagagctcc c.*720
. . . . . . g.68963
agatgggcaaggaagaggcttggttctagcctggctctgcccctcactgcagtggatcca c.*780
. . . . . . g.69023
gtggggcagaggacagagggtcacaaccaatgagggatgtctgccaaggatgggggtgca c.*840
. . . . . . g.69083
gaggccacaggagtcagcttgccactcgcccattggttacatagatgatctctcagacag c.*900
. . . . . . g.69143
gctgggactcagagttatttcctagtatcggtgtgccccatccagttttaagtggagccc c.*960
. . . . . . g.69203
tccaagactctccagagctgcctttgaacatcctaacagtaatcacatctcaccctccct c.*1020
. . . . . . g.69263
gaggttcactttagacaggacccaatggctgcactgcctttgtcagagggggtgctgaga c.*1080
. . . . . . g.69323
ggagtggcttcttttagaatcaaacagtagagacaagagtcaagccttgtgtcttcaagc c.*1140
. . . . . . g.69383
attgaccaagttaagtgtttccttccctctctcaataagacacttccaggagctttccaa c.*1200
. . . . . . g.69443
tctctcacttaaaactaaggtttgaatctcaaagtgttgctgggaggctgatactcctgc c.*1260
. . . . . . g.69503
aacttcaggagacctgtgagcacacattagcagctgtttctctgactccttgtggcatca c.*1320
. . . . . . g.69563
gataaaaacgtgggagtttttccatataattcccagccttacttataaattctattcttt c.*1380
. . . . . . g.69623
gaaaaaattattcaggctaggtaaggtggctcatacctataatcccagccctttgagagg c.*1440
. . . . . . g.69683
ccaaggtgggagaattgcttgaggccaggagtttgagacctcctgggcaacatagtgaga c.*1500
. . . . . . g.69743
tcccatctctacaaaaaacaaaacaaaaaaattacccaagcatgatggtatatgcctgta c.*1560
. . . . . . g.69803
gtcgtacctacttacttaggaggctgaggcaggaggatcacttgagccctggaggttggg c.*1620
. . . . . . g.69863
gctgcagtgagccatgatcgcatcactatactcgagcctgggcaacagagtgagaccttg c.*1680
. . . . g.69909
tctcttaaaaaaattaataataaataaatgaaaataattcttcaga c.*1726
(downstream sequence)
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