(used for variant description)
(last modified July 24, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001144758.2 in the PHLDB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering PHLDB1 transcript NM_001144758.2.
(upstream sequence)
. g.6103
agcgagctcc c.-121
. . . . . . g.6163
cggggaaaagcaacggtgtcctcctaagcctgaggccaccgcgaccgagccgagccaggc c.-61
. . . . | 02 . g.12339
taagggaccagtgtctccctgccccccccccacctctag | gagctctggagccttaggacc c.-1
. . . . . . g.12399
ATGGACGCTCTCAATAGGAACCAAATAGGCCCTGGATGCCAGACCCAGACCATGGTGCAG c.60
M D A L N R N Q I G P G C Q T Q T M V Q p.20
| 03 . . . . . . g.13121
| AAAGGACCCTTGGACCTGATCGAGACAGGCAAAGGGCTGAAAGTGCAAACGGACAAACCC c.120
| K G P L D L I E T G K G L K V Q T D K P p.40
. . . . . . g.13181
CACCTGGTGAGCCTGGGCAGTGGGCGACTCAGCACAGCCATCACCCTCCTGCCGCTGGAG c.180
H L V S L G S G R L S T A I T L L P L E p.60
| 04 . . . . . . g.14599
GAAG | GGAGGACGGTGATTGGCTCTGCAGCCAGAGACATCTCACTACAGGGCCCAGGCCTG c.240
E G | R T V I G S A A R D I S L Q G P G L p.80
. . . . . . g.14659
GCTCCAGAGCACTGCTACATCGAGAACCTGCGGGGCACCCTCACCCTCTACCCCTGTGGC c.300
A P E H C Y I E N L R G T L T L Y P C G p.100
. . . . . | 05 . g.23442
AATGCCTGCACTATTGATGGGCTCCCTGTCCGGCAGCCTACCCGGCTCACTCAGG | GCTGC c.360
N A C T I D G L P V R Q P T R L T Q G | C p.120
. . . . . . g.23502
ATGTTGTGCCTGGGTCAGTCCACCTTCCTTCGCTTTAACCACCCGGCTGAAGCCAAGTGG c.420
M L C L G Q S T F L R F N H P A E A K W p.140
. . . . . . g.23562
ATGAAAAGCATGATTCCAGCAGGGGGCCGAGCCCCTGGGCCCCCCTACAGCCCTGTTCCT c.480
M K S M I P A G G R A P G P P Y S P V P p.160
| 06 . . . . . . g.25867
G | CAGAATCAGAAAGTCTGGTAAATGGGAACCACACCCCACAGACTGCAACACGGGGACCC c.540
A | E S E S L V N G N H T P Q T A T R G P p.180
. . . . . . g.25927
TCTGCCTGTGCCAGCCACAGTTCCCTGGTGAGCTCTATTGAGAAGGACCTGCAAGAGATC c.600
S A C A S H S S L V S S I E K D L Q E I p.200
. . . . . . g.25987
ATGGACTCACTGGTGCTAGAGGAGCCTGGAGCTGCTGGCAAGAAGCCTGCCGCAACCTCT c.660
M D S L V L E E P G A A G K K P A A T S p.220
. . . . . . g.26047
CCACTGTCACCGATGGCTAATGGTGGGCGCTACCTGCTGTCTCCCCCAACCAGCCCCGGC c.720
P L S P M A N G G R Y L L S P P T S P G p.240
. . . . . . g.26107
GCCATGTCTGTGGGCTCCAGCTATGAGAACACCTCTCCAGCCTTCTCTCCACTCTCTTCA c.780
A M S V G S S Y E N T S P A F S P L S S p.260
. . . . . . g.26167
CCAGCCAGCAGTGGAAGCTGTGCCAGTCACTCACCCAGTGGGCAAGAGCCAGGACCTTCT c.840
P A S S G S C A S H S P S G Q E P G P S p.280
. . . . . . g.26227
GTGCCCCCGCTGGTACCTGCCCGTTCCTCCAGCTACCATCTGGCCCTACAGCCCCCACAG c.900
V P P L V P A R S S S Y H L A L Q P P Q p.300
. . . . . . g.26287
TCCCGCCCAAGTGGTGCTCGCTCCGAGAGTCCTCGGCTGAGCAGGAAAGGGGGCCATGAG c.960
S R P S G A R S E S P R L S R K G G H E p.320
. . . . . . g.26347
AGGCCTCCCAGCCCTGGCCTCCGGGGTCTGCTGACAGACAGCCCTGCAGCTACTGTCTTG c.1020
R P P S P G L R G L L T D S P A A T V L p.340
. . . . . . g.26407
GCGGAGGCCCGGAGAGCCACTGAGAGCCCCCGGCTGGGTGGGCAGCTGCCTGTGGTGGCC c.1080
A E A R R A T E S P R L G G Q L P V V A p.360
. . . . . . g.26467
ATCAGCCTGAGTGAATACCCAGCTTCTGGTGCTCTCAGTCAACCCACCAGCATTCCTGGC c.1140
I S L S E Y P A S G A L S Q P T S I P G p.380
. . . . . . g.26527
AGCCCCAAGTTTCAGCCTCCAGTCCCTGCTCCCCGAAACAAGATTGGCACACTCCAGGAC c.1200
S P K F Q P P V P A P R N K I G T L Q D p.400
. . . . . . g.26587
CGCCCTCCCAGCCCTTTCCGTGAGCCTCCAGGCAGTGAGCGGGTGCTAACAACCAGCCCC c.1260
R P P S P F R E P P G S E R V L T T S P p.420
. . . . . . g.26647
TCACGCCAACTGGTGGGCCGAACATTTTCAGATGGGTTAGCCACCCGTACCCTGCAGCCT c.1320
S R Q L V G R T F S D G L A T R T L Q P p.440
. . . . . . g.26707
CCTGAGAGTCCCCGCCTGGGCCGGCGGGGCCTGGACAGTATGCGAGAACTACCCCCCTTA c.1380
P E S P R L G R R G L D S M R E L P P L p.460
. . . . . . g.26767
AGTCCATCTCTGTCCCGGCGAGCTCTCTCCCCGCTGCCCACCCGGACCACCCCAGATCCC c.1440
S P S L S R R A L S P L P T R T T P D P p.480
. . . . . . g.26827
AAGCTAAACAGGGAAGTGGCAGAGAGTCCTCGGCCCCGGCGCTGGGCAGCCCATGGGGCT c.1500
K L N R E V A E S P R P R R W A A H G A p.500
. . . . . . g.26887
TCACCAGAGGACTTCTCCCTGACGCTGGGGGCACGGGGCCGTAGGACACGGAGCCCCTCA c.1560
S P E D F S L T L G A R G R R T R S P S p.520
. . . . . . g.26947
CCCACACTGGGTGAGTCTCTGGCACCCCACAAGGGCAGCTTCAGTGGCAGGCTGAGCCCA c.1620
P T L G E S L A P H K G S F S G R L S P p.540
. . . . . . g.27007
GCCTACAGTCTGGGCTCTCTTACTGGGGCTTCACCCTGCCAGAGTCCCTGTGTCCAGAGG c.1680
A Y S L G S L T G A S P C Q S P C V Q R p.560
. . . . . . g.27067
AAGCTCTCCAGCGGGGACTTGCGGGTGCCTGTCACAAGGGAGCGGAAAAATAGCATCACA c.1740
K L S S G D L R V P V T R E R K N S I T p.580
. . . . . . g.27127
GAGATCAGTGACAATGAGGACGACCTCCTGGAGTACCACCGGCGACAGCGCCAAGAGCGG c.1800
E I S D N E D D L L E Y H R R Q R Q E R p.600
. . | 07. . . . g.29744
CTCCGGGAGCAGGAGATGGAGAGGCTG | GAACGCCAGCGCCTGGAGACCATCCTGAACCTG c.1860
L R E Q E M E R L | E R Q R L E T I L N L p.620
. . . . . . g.29804
TGTGCCGAATACAGCCGGGCTGATGGGGGACCTGAGGCTGGGGAGCTTCCCAGCATTGGG c.1920
C A E Y S R A D G G P E A G E L P S I G p.640
. . . . . . g.29864
GAGGCCACCGCAGCATTGGCACTGGCAGGCCGGAGGCCCTCACGAGGCCTTGCAGGGGCC c.1980
E A T A A L A L A G R R P S R G L A G A p.660
. . . . . . g.29924
TCTGGGCGGAGCAGCGAGGAGCCTGGCGTTGCCACCCAACGCCTATGGGAGAGTATGGAG c.2040
S G R S S E E P G V A T Q R L W E S M E p.680
. . . . . . g.29984
CGCTCAGATGAGGAAAATCTCAAGGAGGAGTGCAGCAGCACTGAGAGCACCCAGCAGGAG c.2100
R S D E E N L K E E C S S T E S T Q Q E p.700
| 08 . . . . . . g.30477
| CACGAAGATGCACCTAGCACCAAGCTCCAGGGAGAGGTGCTAGCCCTGGAAGAAGAGCGG c.2160
| H E D A P S T K L Q G E V L A L E E E R p.720
. . . . . . g.30537
GCTCAGGTGCTGGGGCACGTGGAGCAGCTCAAGGTCCGTGTGAAGGAGCTAGAGCAGCAG c.2220
A Q V L G H V E Q L K V R V K E L E Q Q p.740
. . | 09 . . . . g.30702
CTGCAGGAGTCAGCCCGAGAG | GCCGAAATGGAGCGGGCACTGCTGCAGGGAGAGAGGGAG c.2280
L Q E S A R E | A E M E R A L L Q G E R E p.760
. . . . . . g.30762
GCAGAGCGGGCACTGCTGCAGAAGGAGCAGAAGGCAGTGGATCAGCTGCAGGAGAAGCTG c.2340
A E R A L L Q K E Q K A V D Q L Q E K L p.780
. . . | 10 . . g.33919
GTGGCCTTGGAGACAGGCATCCAGAAGGAGAGGGACAAG | GAGGCAGAGGCCCTGGAGACT c.2400
V A L E T G I Q K E R D K | E A E A L E T p.800
. . . . . . g.33979
GAGACAAAGCTCTTTGAGGACTTGGAGTTCCAGCAGTTGGAGCGGGAGAGCCGCGTGGAG c.2460
E T K L F E D L E F Q Q L E R E S R V E p.820
. . . . . . g.34039
GAGGAGCGCGAGCTGGCCGGCCAGGGGCTGCTCCGGAGCAAGGCTGAGCTGCTCCGCAGC c.2520
E E R E L A G Q G L L R S K A E L L R S p.840
. | 11 . . . . . g.37441
ATCGCCAAGAGGAAG | GAGCGCCTGGCCATCCTGGACAGTCAGGCTGGGCAGATCCGGGCT c.2580
I A K R K | E R L A I L D S Q A G Q I R A p.860
. . . . . . g.37501
CAGGCCGTGCAGGAATCAGAACGCCTGGCCCGGGACAAGAATGCCTCCTTACAGCTGCTG c.2640
Q A V Q E S E R L A R D K N A S L Q L L p.880
| 12 . . . . . . g.37721
CAAAAG | GAGAAGGAGAAGCTGACTGTGCTGGAAAGGAGATACCACTCACTCACAGGGGGC c.2700
Q K | E K E K L T V L E R R Y H S L T G G p.900
. . . | 13 . . . g.40783
AGGCCTTTCCCGAAGACCACATCGACCCTCAAAGAG | ATGGAGAAGCTGCTGCTCCCTGCT c.2760
R P F P K T T S T L K E | M E K L L L P A p.920
. . . . . . g.40843
GTAGACTTAGAGCAGTGGTACCAGGAGCTGATGGCCGGGCTGGGGACTGGCCCCGCTGCA c.2820
V D L E Q W Y Q E L M A G L G T G P A A p.940
. . . . . | 14. g.42308
GCCTCCCCTCACTCTTCTCCCCCGCCTCTGCCCGCCAAAGCTTCCCGTCAGCTGCAG | GTT c.2880
A S P H S S P P P L P A K A S R Q L Q | V p.960
. . . . . . g.42368
TACCGCTCCAAGATGGATGGCGAGGCCACCAGCCCCCTTCCCCGGACCCGCAGCGGCCCC c.2940
Y R S K M D G E A T S P L P R T R S G P p.980
. . . . . . g.42428
CTCCCCTCCTCCTCTGGCTCTTCCTCCTCCTCCTCCCAGCTCAGCGTGGCTACCCTGGGG c.3000
L P S S S G S S S S S S Q L S V A T L G p.1000
. | 15 . . . . g.42619
CGTAGCCCCTCCCCAAAG | AGCGCTCTACTCACCCAGAATGGCACGGGCAGCCTTCCTCGC c.3060
R S P S P K | S A L L T Q N G T G S L P R p.1020
. . . . . . g.42679
AACCTGGCAGCCACACTGCAGGACATCGAGACCAAGCGCCAACTAGCTCTGCAGCAGAAG c.3120
N L A A T L Q D I E T K R Q L A L Q Q K p.1040
| 16 . . . . . . g.43920
G | GACAACAAGTGATTGAAGAGCAGCGGCGGCGACTGGCTGAGCTGAAGCAGAAAGCGGCA c.3180
G | Q Q V I E E Q R R R L A E L K Q K A A p.1060
. . . . . . g.43980
GCTGAGGCACAGTGCCAGTGGGATGCCCTTCACGGGGCAGCACCCTTCCCAGCGGGCCCC c.3240
A E A Q C Q W D A L H G A A P F P A G P p.1080
. . . . . . g.44040
TCGGGCTTCCCCCCTCTCATGCACCACTCTATCCTACACCACCTGCCTGCGGGGCGGGAG c.3300
S G F P P L M H H S I L H H L P A G R E p.1100
. . . . . . g.44100
CGTGGGGAGGAGGGTGAGCACGCCTATGATACGCTGAGTCTGGAGAGCTCTGACAGCATG c.3360
R G E E G E H A Y D T L S L E S S D S M p.1120
. . . . . | 17 . g.44244
GAGACCAGCATCTCCACCGGGGGCAACTCGGCCTGCTCCCCTGACAACATGTCCAG | CGCG c.3420
E T S I S T G G N S A C S P D N M S S | A p.1140
. . . . . . g.44304
AGTGGTCTGGACATGGGGAAGATCGAGGAGATGGAGAAGATGCTGAAAGAGGCTCATGCA c.3480
S G L D M G K I E E M E K M L K E A H A p.1160
. . | 18. . . . g.46466
GAGAAGAACCGGCTCATGGAGTCGAGG | GAGCGGGAGATGGAGCTGCGGCGGCAGGCCCTG c.3540
E K N R L M E S R | E R E M E L R R Q A L p.1180
. . . . . . g.46526
GAGGAGGAGCGGCGGAGGCGTGAGCAGGTAGAACGGAGGCTGCAGAGTGAGAGTGCCCGG c.3600
E E E R R R R E Q V E R R L Q S E S A R p.1200
. . . . . | 19 . g.48575
AGGCAGCAGCTGGTCGAGAAGGAGGTCAAGATGCGGGAGAAACAATTTTCCCAG | GCACGA c.3660
R Q Q L V E K E V K M R E K Q F S Q | A R p.1220
. . . . . . g.48635
CCCCTGACCCGCTACCTGCCAATCCGGAAGGAGGACTTTGACCTGAAGACACATATTGAG c.3720
P L T R Y L P I R K E D F D L K T H I E p.1240
. . . . . | 20 . g.48946
TCATCGGGCCATGGTGTTGATACCTGCCTGCACGTGGTGCTCAGCAGCAAG | GTCTGCCGT c.3780
S S G H G V D T C L H V V L S S K | V C R p.1260
. . . . . . g.49006
GGCTACTTGGTCAAGATGGGCGGCAAGATTAAATCATGGAAGAAGCGCTGGTTTGTCTTC c.3840
G Y L V K M G G K I K S W K K R W F V F p.1280
. . . | 21 . . . g.54128
GACCGGCTCAAGCGCACCCTTTCCTATTATGTGG | ACAAGCATGAGACGAAGCTGAAGGGA c.3900
D R L K R T L S Y Y V D | K H E T K L K G p.1300
. . . . . . g.54188
GTCATCTATTTCCAGGCCATTGAGGAAGTGTACTACGACCACCTGCGCAGTGCAGCCAAG c.3960
V I Y F Q A I E E V Y Y D H L R S A A K p.1320
| 22 . . . | 23 . . . g.55207
| AAGAGGTTTTTCCGCTTCACTATGGTGACTGAG | AGCCCGAACCCAGCCCTCACCTTCTGC c.4020
| K R F F R F T M V T E | S P N P A L T F C p.1340
. . . . . . g.55267
GTAAAGACCCATGACCGGCTGTACTACATGGTGGCCCCATCTGCAGAGGCCATGCGTATC c.4080
V K T H D R L Y Y M V A P S A E A M R I p.1360
. . . . . g.55321
TGGATGGATGTCATTGTCACAGGGGCTGAGGGCTACACTCAGTTCATGAACTAA c.4134
W M D V I V T G A E G Y T Q F M N X p.1377
. . . . . . g.55381
ctgccgtgggcctcctggcagagcacaactggggcttttgtataagaagactttaatatt c.*60
. . . . . . g.55441
ctgtaaggagcttggtcctgtgagtttctgggctctggcctcctgaagaaccagccagaa c.*120
. . . . . . g.55501
gaagaaaagtagaggtggctttgctgcctcctgggagcccagaacttgcagtaacccttt c.*180
. . . . . . g.55561
agggtcctgccccaggcccagccagggctgaggagctgtcacagagagggcctcagctct c.*240
. . . . . . g.55621
gacctgacacctgctctccccagcctgttttctcttttctaaaagacaaattatggtacc c.*300
. . . . . . g.55681
ataagctgccaaagatcccctcctgcctcagacccctttgccaggggctttgggggctga c.*360
. . . . . . g.55741
gcagagccacatccagagtggggtaatagctcaggcggcccgcttcccatttctcaaacc c.*420
. . . . . . g.55801
ccgctctgccccattgttctcctttcccttatactttttattaccttgctcaagggccag c.*480
. . . . . . g.55861
agatctcaagtgtcaaccttgaggtcccagctccatcccctagttgcagactcatcacca c.*540
. . . . . . g.55921
tggttaccatagtgactgcttcattgccatggttacatactaattgctgcagctctgtgg c.*600
. . . . . . g.55981
cccagcccactgcttcagctgtgggccatctgagggtacgtgccatcatctctccagccc c.*660
. . . . . . g.56041
aggcccctgggcatctcatgctggggggaagggactgaatacctttttccttccccctgc c.*720
. . . . . . g.56101
ctgtgtcttcagccctgatgcacaggctgccagccccccagtccagccctctcccttcca c.*780
. . . . . . g.56161
ctggtgccttgcttagagccagaagggatgaagccgggggatctatggaacagaggagga c.*840
. . . . . . g.56221
gcgatgcagttgggagaggaagctagaagggttatggttggagttctgtacagtgttgag c.*900
. . . . . . g.56281
tttccgacagggaaagaggattcctccaatgctcctagagagaaagcctgagcaggagat c.*960
. . . . . . g.56341
gatgcagcagaggggaagggccctgtggtgccgccgcccttccttcagcctccgaagggt c.*1020
. . . . . . g.56401
gatggaaatggagagtggaggaccaggcctccagctgtctggcctcgcccttcacgcctt c.*1080
. . . . . . g.56461
aacactaagcccacctcccctgctctccttcccagcattgagcccttggttgcctgggcc c.*1140
. . . . . . g.56521
caggctgggggttttcagtatttgtaagcatttcagcagaacaataaagcctttggacta c.*1200
. g.56536
cggaagtgagtggaa c.*1215
(downstream sequence)
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