(used for variant description)
(last modified March 5, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000293.2 in the PHKB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016598.1, covering PHKB transcript NM_000293.2.
(upstream sequence)
. . . . . g.5052
attgctgacaggcggccccgggggcggtggccaaggcggcgaccggagcgcg c.-1
. . . . . . g.5112
ATGGCGGGGGCGGCGGGACTCACGGCAGAAGTGAGCTGGAAGGTCTTGGAGCGAAGAGCT c.60
M A G A A G L T A E V S W K V L E R R A p.20
. | 02 . . . . . g.41144
CGGACCAAGCGCTCAG | GCTCAGTTTATGAACCTCTTAAAAGCATTAATCTTCCAAGACCT c.120
R T K R S G | S V Y E P L K S I N L P R P p.40
. . . . | 03 . . g.43471
GATAATGAAACTCTCTGGGATAAGTTGGACCATTATTACAGAATTG | TCAAGTCAACATTG c.180
D N E T L W D K L D H Y Y R I V | K S T L p.60
. . . . . . g.43531
CTGCTGTATCAAAGTCCAACTACCGGTCTCTTTCCCACTAAAACATGCGGTGGTGACCAG c.240
L L Y Q S P T T G L F P T K T C G G D Q p.80
. . . . . . g.43591
AAGGCCAAGATCCAGGACAGCCTATACTGCGCTGCTGGGGCCTGGGCTTTGGCTCTTGCA c.300
K A K I Q D S L Y C A A G A W A L A L A p.100
| 04 . . . . . . g.46747
TACAG | GCGAATTGATGATGACAAGGGAAGGACCCATGAGCTGGAGCACTCAGCTATAAAA c.360
Y R | R I D D D K G R T H E L E H S A I K p.120
. . . . | 05 . . g.55381
TGCATGAGAGGAATTCTCTACTGCTATATGCGTCAGGCCGATAAG | GTCCAGCAGTTTAAG c.420
C M R G I L Y C Y M R Q A D K | V Q Q F K p.140
. . . . . . g.55441
CAGGATCCACGCCCAACAACATGTCTTCACTCTGTTTTCAATGTGCATACAGGAGATGAG c.480
Q D P R P T T C L H S V F N V H T G D E p.160
. . . | 06 . . . g.59249
TTGCTTTCCTATGAGGAATATGGTCATCTTCAG | ATAAATGCAGTGTCACTTTATCTCCTT c.540
L L S Y E E Y G H L Q | I N A V S L Y L L p.180
. . . . . | 07 . g.91140
TACCTTGTGGAAATGATTTCCTCAGGACTCCAGATTATCTACAACACTGATGAG | GTCTCT c.600
Y L V E M I S S G L Q I I Y N T D E | V S p.200
. . . . . . g.91200
TTTATTCAAAACCTTGTATTTTGTGTGGAAAGAGTTTACCGTGTGCCTGACTTTGGTGTC c.660
F I Q N L V F C V E R V Y R V P D F G V p.220
. . . . . | 08 . g.124006
TGGGAAAGAGGAAGCAAATATAATAATGGCAGCACAGAGCTACATTCGAG | CTCGGTTGGT c.720
W E R G S K Y N N G S T E L H S S | S V G p.240
. . . . . | 09 . g.131375
TTAGCAAAAGCAGCTCTAGAAGCAATTAATGGATTCAACCTTTTTGGCAACCAG | GGCTGT c.780
L A K A A L E A I N G F N L F G N Q | G C p.260
. . . . . . g.131435
TCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGC c.840
S W S V I F V D L D A H N R N R Q T L C p.280
. . . | 10 . . . g.132636
TCGCTGTTACCCAGAGAATCAAGATCACAT | AATACAGATGCTGCCCTGCTCCCCTGCATC c.900
S L L P R E S R S H | N T D A A L L P C I p.300
. . . . . . g.132696
AGTTATCCTGCATTTGCCCTGGATGATGAAGTTCTTTTTAGCCAGACACTTGATAAAGTG c.960
S Y P A F A L D D E V L F S Q T L D K V p.320
. . . . . . g.132756
GTTAGAAAATTAAAAGGAAAATATGGATTTAAACGTTTCTTGAGAGATGGGTATAGAACA c.1020
V R K L K G K Y G F K R F L R D G Y R T p.340
. . . . | 11 . g.137213
TCATTGGAAGATCCCAACAGATGCTACTACAAGCCAGCTGAAATTAAG | CTATTTGATGGC c.1080
S L E D P N R C Y Y K P A E I K | L F D G p.360
. . . . | 12 . . g.137852
ATTGAATGTGAATTTCCCATATTTTTCCTTTATATGATGATTGATG | GAGTTTTTAGAGGC c.1140
I E C E F P I F F L Y M M I D G | V F R G p.380
. . . . . . g.137912
AATCCTAAGCAAGTACAGGAATATCAGGATCTTTTGACTCCAGTACTTCATCATACCACA c.1200
N P K Q V Q E Y Q D L L T P V L H H T T p.400
| 13 . . . . . . g.140130
GAAG | GATATCCTGTTGTACCAAAGTACTATTATGTGCCAGCTGACTTTGTAGAATATGAA c.1260
E G | Y P V V P K Y Y Y V P A D F V E Y E p.420
. . . . . . g.140190
AAAAATAACCCTGGTAGTCAAAAACGATTTCCTAGCAACTGTGGCCGTGATGGAAAACTG c.1320
K N N P G S Q K R F P S N C G R D G K L p.440
. . . . | 14 . . g.154544
TTTCTTTGGGGACAAGCACTTTATATCATCGCAAAACTCCTGG | CTGATGAACTTATTAGT c.1380
F L W G Q A L Y I I A K L L A | D E L I S p.460
. . . . . . g.154604
CCTAAAGACATTGATCCTGTCCAGCGCTATGTCCCACTAAAGGATCAACGTAACGTGAGC c.1440
P K D I D P V Q R Y V P L K D Q R N V S p.480
. | 15 . . . . g.184778
ATGAGGTTTTCCAATCAG | GGCCCACTGGAAAATGACTTGGTAGTTCATGTGGCACTTATA c.1500
M R F S N Q | G P L E N D L V V H V A L I p.500
. | 16 . . . . . g.185346
GCAGAAAGCCAAAG | ACTTCAAGTTTTTCTGAACACATATGGTATTCAAACTCAAACTCCT c.1560
A E S Q R | L Q V F L N T Y G I Q T Q T P p.520
. . . . | 17 . g.192246
CAACAAGTAGAACCCATTCAGATATGGCCTCAGCAGGAGCTTGTGAAA | GCTTATTTGCAG c.1620
Q Q V E P I Q I W P Q Q E L V K | A Y L Q p.540
. . . . . . g.192306
CTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTC c.1680
L G I N E K L G L S G R P D R P I G C L p.560
. | 18 . . . . . g.192849
GGGACATCAAAG | ATTTATCGCATTCTAGGAAAGACTGTGGTTTGTTACCCGATTATTTTC c.1740
G T S K | I Y R I L G K T V V C Y P I I F p.580
. . . . . | 19. g.194248
GACCTAAGTGATTTCTACATGTCTCAGGATGTTTTCCTGCTGATAGATGACATAAAG | AAT c.1800
D L S D F Y M S Q D V F L L I D D I K | N p.600
. . . . . . g.194308
GCGCTGCAGTTCATTAAACAATATTGGAAAATGCATGGACGTCCACTTTTCCTTGTTCTC c.1860
A L Q F I K Q Y W K M H G R P L F L V L p.620
. . | 20 . . . . g.194572
ATCCGGGAAGACAATATAAG | AGGTAGCCGGTTCAACCCCATATTAGATATGCTGGCAGCC c.1920
I R E D N I R | G S R F N P I L D M L A A p.640
. . . . . | 21 . g.204216
CTTAAAAAAGGAATAATTGGAGGAGTCAAAGTTCATGTGGATCGTCTACAG | ACACTAATA c.1980
L K K G I I G G V K V H V D R L Q | T L I p.660
. . . . . | 22 . g.204365
TCTGGAGCTGTGGTAGAACAACTTGATTTCCTACGAATCAGTGACACAGAAGA | GCTTCCA c.2040
S G A V V E Q L D F L R I S D T E E | L P p.680
. . . . . . g.204425
GAATTTAAGAGTTTTGAGGAACTAGAACCTCCCAAACATTCAAAAGTCAAACGGCAAAGC c.2100
E F K S F E E L E P P K H S K V K R Q S p.700
. . . . . . g.204485
AGCACCCCTAGTGCTCCTGAACTGGGACAGCAGCCGGATGTCAACATTAGTGAATGGAAG c.2160
S T P S A P E L G Q Q P D V N I S E W K p.720
. . . | 23 . . . g.205444
GACAAACCCACCCACGAAATTCTTCAAAAACTGAAT | GATTGCAGTTGTCTGGCTAGCCAA c.2220
D K P T H E I L Q K L N | D C S C L A S Q p.740
. . . . . | 24 g.207380
GCCATCCTGCTGGGTATACTGCTCAAAAGAGAAGGCCCCAACTTCATCACAAAGGAAG | GT c.2280
A I L L G I L L K R E G P N F I T K E G | p.760
. . . . . | 25 . g.208590
ACCGTTTCTGATCACATTGAGAGAGTCTATAGAAGAGCTGGCAGCCAAAAACTTTG | GTTG c.2340
T V S D H I E R V Y R R A G S Q K L W | L p.780
. . . . . . g.208650
GCGGTGCGCTACGGGGCTGCATTTACCCAGAAATTTTCTTCCTCTATAGCCCCACACATT c.2400
A V R Y G A A F T Q K F S S S I A P H I p.800
. . | 26. . . . g.212949
ACTACTTTTCTGGTACATGGGAAACAG | GTAACTCTGGGTGCCTTTGGGCATGAAGAAGAA c.2460
T T F L V H G K Q | V T L G A F G H E E E p.820
. . . . . . g.213009
GTTATCTCTAATCCTTTGTCTCCAAGAGTGATTCAAAACATCATCTATTATAAGTGTAAC c.2520
V I S N P L S P R V I Q N I I Y Y K C N p.840
. . . . . . g.213069
ACCCATGATGAGAGGGAAGCGGTCATTCAGCAAGAACTGGTCATCCATATTGGCTGGATC c.2580
T H D E R E A V I Q Q E L V I H I G W I p.860
. . . . . | 27 . g.232752
ATCTCCAATAACCCTGAGTTATTCAGTGGCATGCTGAAAATACGAATCGG | GTGGATCATC c.2640
I S N N P E L F S G M L K I R I G | W I I p.880
. . . . . . g.232812
CATGCCATGGAGTATGAACTTCAGATCCGTGGCGGAGACAAGCCAGCCTTGGACTTGTAT c.2700
H A M E Y E L Q I R G G D K P A L D L Y p.900
. . . . . . g.232872
CAGCTGTCACCTAGTGAAGTTAAACAGCTTCTGCTGGATATTCTGCAGCCTCAACAGAAT c.2760
Q L S P S E V K Q L L L D I L Q P Q Q N p.920
| 28 . . . . . . g.237134
GGAAG | ATGTTGGCTGAACAGGCGTCAGATCGATGGGTCTTTGAATAGAACTCCCACCGGG c.2820
G R | C W L N R R Q I D G S L N R T P T G p.940
. . . . . . g.237194
TTCTATGACCGAGTGTGGCAGATTCTGGAGCGCACGCCCAATGGGATCATTGTTGCTGGG c.2880
F Y D R V W Q I L E R T P N G I I V A G p.960
. | 29 . . . . . g.240127
AAGCATTTGCCTCAG | CAACCAACCCTGTCAGATATGACCATGTATGAGATGAATTTCTCT c.2940
K H L P Q | Q P T L S D M T M Y E M N F S p.980
. . . . . . g.240187
CTCCTTGTTGAAGACACGTTGGGAAATATTGACCAGCCACAGTACAGACAGATCGTTGTA c.3000
L L V E D T L G N I D Q P Q Y R Q I V V p.1000
| 30 . . . . . . g.242206
GAG | TTACTTATGGTTGTATCCATTGTACTGGAAAGAAACCCCGAGCTAGAATTTCAAGAC c.3060
E | L L M V V S I V L E R N P E L E F Q D p.1020
. . . . . . g.242266
AAAGTAGATCTAGACAGACTGGTCAAAGAAGCATTTAATGAATTTCAAAAAGATCAGAGT c.3120
K V D L D R L V K E A F N E F Q K D Q S p.1040
. . | 31 . . . . g.242966
CGGCTAAAGGAAATTGAAAAACAA | GATGACATGACTTCCTTTTACAACACTCCTCCCCTG c.3180
R L K E I E K Q | D D M T S F Y N T P P L p.1060
. . . . . . g.243026
GGAAAAAGAGGAACATGCAGCTATTTGACAAAGGCGGTGATGAATCTGCTGCTGGAAGGA c.3240
G K R G T C S Y L T K A V M N L L L E G p.1080
. . . . g.243068
GAAGTCAAGCCAAACAATGATGACCCGTGTCTGATTAGCTAG c.3282
E V K P N N D D P C L I S X p.1093
. . . . . . g.243128
tggggaaggtgtaggaagctctgttgagacacatgttctgaagtgtgttgtgtttcatgt c.*60
. . . . . . g.243188
tcaagcttaatcaaggcagccattaatatacgaactgagcatgctggggaggtgaatgcc c.*120
. . . . . . g.243248
acatccttggcggggttatggacctcttgcatgtcatagccaatctaacggtaatggtaa c.*180
. . . . . . g.243308
atgcttttaatcaagcaggaaaaagttctcatgattatgccaactataatagtaatcctc c.*240
. . . . . . g.243368
actgagtgataaaaatagtttatgaattgaaaatttgccgctgcatgttgtatgatcaaa c.*300
. . . . . . g.243428
tagttcatcaaaatgaatctttgctctttggactgaattcttaccatactgccattaaaa c.*360
. . . . . . g.243488
taaatttgccaactagtaatgcatactggaaatcaaaagatactgaaagaatggtgaact c.*420
. . . . . . g.243548
tctcttagtggtattgtcatgctaaaagatgttaatatacatcataaaagcaaagtcagc c.*480
. . . . . . g.243608
cagctgatattttggttctcaaaaactgcattattaataatattttagtatacagagcta c.*540
. . . . . . g.243668
ttctacagtttttacattgtaaacatgactgtggttttgtatttgctaaatataggggtt c.*600
. . . . . . g.243728
ggactaaaatataataaatctgtaccttatcaaacattttctttgagctcctgctaaaaa c.*660
. . . . . . g.243788
taggacatgtctatgattgttcaaaaatatgttaaatttaggctcagcacagtagctcac c.*720
. . . . . . g.243848
acctgaaatcttagcacttcgggaggctgaggcaggtggatcacttgaggttaggagttc c.*780
. . . . . . g.243908
aagaccagcccagccaacatggtgaaaaccctgtctctactaaaaatacaaaaattagcc c.*840
. . . . . . g.243968
aggcatgatggtgcatgcctttaaacccagctactgaggaggctgaggcatgagaattgc c.*900
. . . . . . g.244028
ttgaaccaggagacggaggttgcagtgagctgaaatcctgccactgcacaccagcctggg c.*960
. . . . . . g.244088
tgacagagcgagactccatctcaaaaaaaaaaaaaaaaaagaaaaagaaaaaaatatgtt c.*1020
. . . . . . g.244148
aaatttaaggactgttaacctacgttctactagtaaaaacaacattaagggtcattaaat c.*1080
. . . . . . g.244208
tttatttctgaattaatgaacatatctggacattttttgttcctaggttcacaagattga c.*1140
. . . . . . g.244268
gcttcaaactcccgagtgttttcatttaattgatttagaggtagaatggaagagaatctg c.*1200
. . . . . . g.244328
tggtacctaccattatacacatttagttgcccagtttacttaaactttaatgaaagtaga c.*1260
. . . . . . g.244388
aagtagattaaacatttaaattttatttctttcctaaatagaaaaaaaaaaggcccatga c.*1320
. . . . . . g.244448
gtttgagcccttgccccaaagagagttgtttttctgatcaatcttactggagtttcacct c.*1380
. . . . . . g.244508
gagaagatagatttgtcacataaaaaatgcagcttatttgtagtgttttgaaaggatgta c.*1440
. . . . . . g.244568
agaaaggatgagtggcttcagtattgagtcaatcgatatcaaatgaatggatgtgtgagc c.*1500
. . . . . . g.244628
acatggaaaaatctgctgtcagtcacatttctcataacattgaggtacagtgccgagatc c.*1560
. . . . . . g.244688
ttgcataagaaattgtatggatattagttggcaaaattgaaatgaatgagacacagttgg c.*1620
. . . . . . g.244748
gccctaaagaactaaggagggggattgacaaagaatagaattaaactacttgactcaata c.*1680
. . . . . . g.244808
tgttaagagagtttatgaaaagatagtcgtgaagggtgaagctaatttgtaaaactaatg c.*1740
. . . . . . g.244868
cctgaaaaaaacgtaagcatgaagtccatggagagggaattgagagctgacacttcataa c.*1800
. . . . . . g.244928
ctggagaaactggaaattaaagaaagggaaacaaaagacttaaaatttttgtttgccgaa c.*1860
. . . . . . g.244988
atttttacgaaagtaaactgtgttgtagttttaagaatttttttaaaaaatctgattagc c.*1920
. . . . . . g.245048
tgagcaaagttaccagaaaactgctatcctagttgaaatcaaacattacttgcaaatgtg c.*1980
. . . . . . g.245108
ttttctgagtgttagcttcctgcttaaatgttacatatgcaaaattctgaagttttcctg c.*2040
. . . . . . g.245168
tgctactcctgaaagcattcagaatctgtgacacgtattgacttcatgctttgagattca c.*2100
. . . . . g.245225
aaatttattgttctgaaagttatatttagaatcagtaaatcttgatattcaccttta c.*2157
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center