(used for variant description)
(last modified July 24, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_003668.3 in the MAPKAPK5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering MAPKAPK5 transcript NM_003668.3.
(upstream sequence)
. . g.4779
gtcccggcgatgtgtggcgctgaggc c.-481
. . . . . . g.4839
ggcggcgggagcagcggcgccgagctctgcttcggcttcggcttcggcttcgcggcggtg c.-421
. . . . . . g.4899
caggcggcggaggcggaggcgcaggctcttctttaggacctggcgagcccaggtctaagc c.-361
. . . . . . g.4959
ggcggccccgcgaggcccttgcacggcgccccgggtcgaggccctccccgcctcgcccta c.-301
. . . . . . g.5019
ccccaggagcctgcctccccagctggggatgaggctaggaggcggccgcgtggggcccag c.-241
. . . . . . g.5079
cacaaagacctgtccccaggggccgccgcctccgccgctgctgctgccgccagcctagag c.-181
. . . . . . g.5139
ccgcccgccgaagcagagccggcgccggggtcctcatccccaccggtcccgaggggcggc c.-121
. . . . . . g.5199
tgctgcccgtcgccacgaggcccaggggcccgagtgccgagccctttgctccctcggccg c.-61
. . . . . . g.5259
cgcggggacagggctgctgagcagcctccgcctctcccggctgtgggggccccactgagt c.-1
. . . | 02 . . . g.27799
ATGTCGGAGGAGAGCGACATGGACAAAGCCATCAAG | GAAACTTCCATTTTAGAAGAATAC c.60
M S E E S D M D K A I K | E T S I L E E Y p.20
. . . . . | 03 . g.28691
AGTATCAATTGGACTCAGAAGCTGGGAGCTGGAATTAGTGGTCCAGTTAG | AGTCTGTGTA c.120
S I N W T Q K L G A G I S G P V R | V C V p.40
. . . . . . g.28751
AAGAAATCTACTCAAGAACGGTTTGCGCTGAAAATTCTTCTTGATCGTCCAAAAGCTAGA c.180
K K S T Q E R F A L K I L L D R P K A R p.60
| 04 . . . . . . g.30151
AATGAG | GTACGTCTGCACATGATGTGTGCCACACACCCAAACATAGTTCAGATTATTGAA c.240
N E | V R L H M M C A T H P N I V Q I I E p.80
. . . . | 05 . . g.31294
GTGTTTGCTAACAGTGTCCAGTTTCCCCATGAGTCCAGCCCTAG | GGCCCGACTCTTAATT c.300
V F A N S V Q F P H E S S P R | A R L L I p.100
. . . . . . g.31354
GTAATGGAGATGATGGAAGGGGGAGAGCTATTTCACAGAATCAGCCAGCACCGGCACTTT c.360
V M E M M E G G E L F H R I S Q H R H F p.120
. . . | 06 . . . g.32823
ACAGAGAAGCAAGCCAGCCAAGTAACAAAGCAG | ATAGCTTTGGCTCTGCGGCACTGTCAC c.420
T E K Q A S Q V T K Q | I A L A L R H C H p.140
. . . . . . g.32883
TTGTTAAACATTGCGCACAGAGACCTCAAGCCTGAAAATCTGCTTTTTAAGGATAACTCT c.480
L L N I A H R D L K P E N L L F K D N S p.160
| 07 . . . . . . g.33667
TTG | GATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTG c.540
L | D A P V K L C D F G F A K I D Q G D L p.180
. . . | 08 . . g.42993
ATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAG | GTACTGGAGGCGCAAAGAAGG c.600
M T P Q F T P Y Y V A P Q | V L E A Q R R p.200
. . . . . . g.43053
CATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAG c.660
H Q K E K S G I I P T S P T P Y T Y N K p.220
| 09 . . . . . . g.46166
| AGCTGTGACTTGTGGTCCCTAGGGGTGATTATCTATGTGATGCTGTGCGGATACCCTCCT c.720
| S C D L W S L G V I I Y V M L C G Y P P p.240
. . . . . . g.46226
TTTTACTCCAAACACCACAGCCGGACTATCCCAAAGGATATGCGAAGAAAGATCATGACA c.780
F Y S K H H S R T I P K D M R R K I M T p.260
. . . . . . g.46286
GGCAGTTTTGAGTTCCCAGAGGAAGAGTGGAGTCAGATCTCAGAGATGGCCAAAGATGTT c.840
G S F E F P E E E W S Q I S E M A K D V p.280
| 10 . . . . . g.48493
GTGAGGAA | GCTCCTGAAGGTCAAACCGGAGGAGAGACTCACCATCGAGGGAGTGCTGGAC c.900
V R K | L L K V K P E E R L T I E G V L D p.300
. . . . . . g.48553
CACCCCTGGCTCAATTCCACCGAGGCCCTGGATAATGTGCTGCCTTCTGCTCAGCTGATG c.960
H P W L N S T E A L D N V L P S A Q L M p.320
| 11 . . . . . g.51064
ATGGACAAG | GCAGTGGTTGCAGGAATCCAGCAGGCTCACGCGGAACAGTTGGCCAACATG c.1020
M D K | A V V A G I Q Q A H A E Q L A N M p.340
. . . . . . g.51124
AGAATCCAGGATCTGAAAGTCAGCCTCAAACCCCTGCACTCAGTGAACAACCCCATTCTG c.1080
R I Q D L K V S L K P L H S V N N P I L p.360
. . | 12 . . . . g.51450
CGGAAGAGGAAGTTACTTGG | CACCAAGCCAAAGGACAGTGTCTATATCCACGACCATGAG c.1140
R K R K L L G | T K P K D S V Y I H D H E p.380
. . . . . . g.51510
AATGGAGCCGAGGATTCCAATGTTGCCTTGGAAAAACTCCGAGATGTGATTGCTCAGTGT c.1200
N G A E D S N V A L E K L R D V I A Q C p.400
. | 13 . . . . . g.52609
ATTCTCCCCCAGGCTG | GAGAGAATGAAGATGAGAAACTGAATGAAGTAATGCAGGAGGCT c.1260
I L P Q A G | E N E D E K L N E V M Q E A p.420
. . . . . . g.52669
TGGAAGTATAACCGGGAATGCAAACTCCTAAGAGATACTCTGCAGAGCTTCAGCTGGAAT c.1320
W K Y N R E C K L L R D T L Q S F S W N p.440
| 14 . . . . . . g.55551
G | GTCGTGGATTCACAGATAAAGTAGATCGACTAAAACTGGCAGAAATTGTGAAGCAGGTG c.1380
G | R G F T D K V D R L K L A E I V K Q V p.460
. . . g.55587
ATAGAAGAGCAAACCACGTCCCACGAATCCCAATAA c.1416
I E E Q T T S H E S Q X p.471
. . . . . . g.55647
tgacagcttcagactttgtttttttaacaatttgaaaaattattctttaatgtataaagt c.*60
. . . . . . g.55707
aattttatgtaaattaataaatcataatttcatttccacattgattaaagctgctgtata c.*120
. . . . . . g.55767
gatttagggtgcaggacttaataatagtatagttattgtttgtttttaagaaaagctcag c.*180
. . . . . . g.55827
ttctagagacatactattactttaggactgtgtagttgtatatttgtaagatgacagatg c.*240
. . . . . . g.55887
atgctgtcaagcaatattgttttatttgtaataaaatatacaaaaatcacttgccagcag c.*300
. . . . . . g.55947
tagaaaaaggaccgactataccgacctttctgattagtaaacagttgaatcaaggactct c.*360
g.55950
gga c.*363
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center