(used for variant description)
(last modified August 22, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_006388.3 in the KAT5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033057.1, covering KAT5 transcript NM_006388.3.
(upstream sequence)
. . g.5026
gcacccggtgggcgtcacgtgacgga c.-241
. . . . . . g.5086
ctcagtagaccgccactggctgtgcacgttatggggtttccacctagggctcggcctgag c.-181
. . . . . . g.5146
gcttgtaacactccgttttcccccgagtcacaggggcagtcttgcccctcgcagctgggt c.-121
. . . . . . g.5206
cgcggtgtctctcaaaggtccccctctacaggggcttcgtgaggcccgggcccacagggc c.-61
. . . . . . g.5266
gctcggtcccggaagtgacgtctcccagaggggccggaagtggcagtggagggagggaag c.-1
. | 02 . . . . . g.5425
ATGGCGGAGGTG | GGGGAGATAATCGAGGGCTGCCGCCTACCCGTGCTGCGGCGGAACCAG c.60
M A E V | G E I I E G C R L P V L R R N Q p.20
. | 03 . . . . g.5805
GACAACGAAGATGAGTGGC | CCCTGGCCGAGATCCTGAGCGTGAAGGACATCAGTGGCCGG c.120
D N E D E W P | L A E I L S V K D I S G R p.40
. . | 04 . . . g.5952
AAGCTTTTCTACGTCCATTACATTGACT | TCAACAAACGTCTGGATGAATGGGTGACGCAT c.180
K L F Y V H Y I D F | N K R L D E W V T H p.60
. . . . . . g.6012
GAGCGGCTGGACCTAAAGAAGATCCAGTTCCCCAAGAAAGAGGCCAAGACCCCCACTAAG c.240
E R L D L K K I Q F P K K E A K T P T K p.80
. . . . | 05 . . g.6361
AACGGACTTCCTGGGTCCCGTCCTGGCTCTCCAGAGAGAGAGGTG | CCGGCCTCGGCGCAG c.300
N G L P G S R P G S P E R E V | P A S A Q p.100
. . . . . . g.6421
GCCAGCGGGAAGACCTTGCCAATCCCGGTCCAGATCACACTCCGCTTCAACCTGCCCAAG c.360
A S G K T L P I P V Q I T L R F N L P K p.120
. . . . . . g.6481
GAGCGGGAGGCCATTCCCGGTGGCGAGCCTGACCAGCCGCTCTCCTCCAGCTCCTGCCTG c.420
E R E A I P G G E P D Q P L S S S S C L p.140
. . | 06 . . . . g.6630
CAGCCCAACCACCGCTCAACG | AAACGGAAGGTGGAGGTGGTTTCACCAGCAACTCCAGTG c.480
Q P N H R S T | K R K V E V V S P A T P V p.160
. . . | 07 . . . g.6796
CCCAGCGAGACAGCCCCGGCCTCGGTTTTTCCCCAG | AATGGAGCCGCCCGTAGGGCAGTG c.540
P S E T A P A S V F P Q | N G A A R R A V p.180
. . . . . | 08 . g.7502
GCAGCCCAGCCAGGACGGAAGCGAAAATCGAATTGTTTGGGCACTGATGAG | GACTCCCAG c.600
A A Q P G R K R K S N C L G T D E | D S Q p.200
. . . . . . g.7562
GACAGCTCTGATGGAATACCGTCAGCACCACGCATGACTGGCAGCCTGGTGTCTGATCGA c.660
D S S D G I P S A P R M T G S L V S D R p.220
. . . . . . g.7622
AGCCACGACGACATCGTCACCCGGATGAAGAACATTGAGTGCATTGAGCTGGGCCGGCAC c.720
S H D D I V T R M K N I E C I E L G R H p.240
. . . . . . g.7682
CGCCTCAAGCCGTGGTACTTCTCCCCGTACCCACAGGAACTCACCACATTGCCTGTCCTC c.780
R L K P W Y F S P Y P Q E L T T L P V L p.260
. . . . . . g.7742
TACCTGTGCGAGTTCTGCCTCAAGTACGGCCGTAGTCTCAAGTGTCTTCAGCGTCATTTG c.840
Y L C E F C L K Y G R S L K C L Q R H L p.280
| 09 . . . . . . g.7879
| ACCAAGTGTGACCTACGACATCCTCCAGGCAATGAGATTTACCGCAAGGGCACCATCTCC c.900
| T K C D L R H P P G N E I Y R K G T I S p.300
. . . | 10 . . . g.9695
TTCTTTGAGATTGATGGACGTAAGAACAAG | AGTTATTCCCAGAACCTGTGTCTTTTGGCC c.960
F F E I D G R K N K | S Y S Q N L C L L A p.320
. . . . . . g.9755
AAGTGTTTCCTTGACCATAAGACACTGTACTATGACACAGACCCTTTCCTCTTCTACGTC c.1020
K C F L D H K T L Y Y D T D P F L F Y V p.340
. . . . . | 11 . g.9896
ATGACAGAGTATGACTGTAAGGGCTTCCACATCGTGGGCTACTTCTCCAAG | GAGAAAGAA c.1080
M T E Y D C K G F H I V G Y F S K | E K E p.360
. . . . . . g.9956
TCAACGGAAGACTACAATGTGGCCTGCATCCTAACCCTGCCTCCCTACCAGCGCCGGGGC c.1140
S T E D Y N V A C I L T L P P Y Q R R G p.380
. . | 12 . . . . g.11623
TACGGCAAGCTGCTGATCGAGTTCA | GCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGG c.1200
Y G K L L I E F S | Y E L S K V E G K T G p.400
. . . . . . g.11683
ACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAG c.1260
T P E K P L S D L G L L S Y R S Y W S Q p.420
. . . . . . g.11743
ACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACC c.1320
T I L E I L M G L K S E S G E R P Q I T p.440
| 13 . . . . . . g.11926
ATCAA | TGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAG c.1380
I N | E I S E I T S I K K E D V I S T L Q p.460
. . | 14. . . . g.12078
TACCTCAATCTCATCAACTACTACAAG | GGCCAGTACATCCTCACACTGTCAGAGGACATC c.1440
Y L N L I N Y Y K | G Q Y I L T L S E D I p.480
. . . . . . g.12138
GTGGATGGCCATGAGCGGGCCATGCTCAAGCGGCTCCTGCGGATCGACTCCAAGTGTCTG c.1500
V D G H E R A M L K R L L R I D S K C L p.500
. . . . g.12180
CACTTCACTCCCAAGGACTGGAGCAAGAGGGGGAAGTGGTGA c.1542
H F T P K D W S K R G K W X p.513
. . . . . . g.12240
ccagacactgcccactgcagtgccaagacggcagcaggactggggctgatagcccacccc c.*60
. . . . . . g.12300
gcccccactgcagctcccacaaagcactctaagggagatggggctgaggacagctcaaaa c.*120
. . . . . . g.12360
aggagaggacaggcctggcaggggcccactggtgcccagcaccaaggcgagctccgggct c.*180
. . . . . . g.12420
cagaccaactccaaggtcagctggccacaggcccaggcctcctctgaagcagggaccaga c.*240
. . . . . . g.12480
gggagccaggcagctgtgtacagtgagaagggatccggatgggggagctctgtacagagg c.*300
. . . . . . g.12540
gctggtgattgtaaaaatttcttttgtaaagtagaagttgggggtggggtgggtgctggc c.*360
. . . . . . g.12600
tgcaaaaatttctggcttctcttacccctattgcccccggcaataaattgtttctatatg c.*420
g.12605
ccaga c.*425
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 24
©2004-2020 Leiden University Medical Center