(used for variant description)
(last modified July 7, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_005807.3 in the PRG4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008248.1, covering PRG4 transcript NM_005807.3.
(upstream sequence)
. . | 02 . . g.5590
aaactcatctatcctttacgg | caagggtacctacggtacctgaaaacaacg c.-1
. . . . . . g.5650
ATGGCATGGAAAACACTTCCCATTTACCTGTTGTTGCTGCTGTCTGTTTTCGTGATTCAG c.60
M A W K T L P I Y L L L L L S V F V I Q p.20
. | 03 . . . . . g.8849
CAAGTTTCATCTCAAG | ATTTATCAAGCTGTGCAGGGAGATGTGGGGAAGGGTATTCTAGA c.120
Q V S S Q D | L S S C A G R C G E G Y S R p.40
. . . . . . g.8909
GATGCCACCTGCAACTGTGATTATAACTGTCAACACTACATGGAGTGCTGCCCTGATTTC c.180
D A T C N C D Y N C Q H Y M E C C P D F p.60
. | 04 . . . . g.10347
AAGAGAGTCTGCACTGCGG | AGCTTTCCTGTAAAGGCCGCTGCTTTGAGTCCTTCGAGAGA c.240
K R V C T A E | L S C K G R C F E S F E R p.80
. . . . . . g.10407
GGGAGGGAGTGTGACTGCGACGCCCAATGTAAGAAGTATGACAAGTGCTGTCCCGATTAT c.300
G R E C D C D A Q C K K Y D K C C P D Y p.100
. | 05 . . . . g.12863
GAGAGTTTCTGTGCAGAAG | TGCATAATCCCACATCACCACCATCTTCAAAGAAAGCACCT c.360
E S F C A E V | H N P T S P P S S K K A P p.120
. . . . . . g.12923
CCACCTTCAGGAGCATCTCAAACCATCAAATCAACAACCAAACGTTCACCCAAACCACCA c.420
P P S G A S Q T I K S T T K R S P K P P p.140
. . . . | 06 . g.13519
AACAAGAAGAAGACTAAGAAAGTTATAGAATCAGAGGAAATAACAGAAG | AACATTCTGTT c.480
N K K K T K K V I E S E E I T E E | H S V p.160
. . . . . . g.13579
TCTGAAAATCAAGAGTCCTCCTCCTCCTCCTCCTCTTCCTCTTCTTCTTCAACAATTCGG c.540
S E N Q E S S S S S S S S S S S S T I R p.180
. . . . . | 07 g.15034
AAAATCAAGTCTTCCAAAAATTCAGCTGCTAATAGAGAATTACAGAAGAAACTCAAAG | TA c.600
K I K S S K N S A A N R E L Q K K L K V | p.200
. . . . . . g.15094
AAAGATAACAAGAAGAACAGAACTAAAAAGAAACCTACCCCCAAACCACCAGTTGTAGAT c.660
K D N K K N R T K K K P T P K P P V V D p.220
. . . . . . g.15154
GAAGCTGGAAGTGGATTGGACAATGGTGACTTCAAGGTCACAACTCCTGACACGTCTACC c.720
E A G S G L D N G D F K V T T P D T S T p.240
. . . . . . g.15214
ACCCAACACAATAAAGTCAGCACATCTCCCAAGATCACAACAGCAAAACCAATAAATCCC c.780
T Q H N K V S T S P K I T T A K P I N P p.260
. . . . . . g.15274
AGACCCAGTCTTCCACCTAATTCTGATACATCTAAAGAGACGTCTTTGACAGTGAATAAA c.840
R P S L P P N S D T S K E T S L T V N K p.280
. . . . . . g.15334
GAGACAACAGTTGAAACTAAAGAAACTACTACAACAAATAAACAGACTTCAACTGATGGA c.900
E T T V E T K E T T T T N K Q T S T D G p.300
. . . . . . g.15394
AAAGAGAAGACTACTTCCGCTAAAGAGACACAAAGTATAGAGAAAACATCTGCTAAAGAT c.960
K E K T T S A K E T Q S I E K T S A K D p.320
. . . . . . g.15454
TTAGCACCCACATCTAAAGTGCTGGCTAAACCTACACCCAAAGCTGAAACTACAACCAAA c.1020
L A P T S K V L A K P T P K A E T T T K p.340
. . . . . . g.15514
GGCCCTGCTCTCACCACTCCCAAGGAGCCCACGCCCACCACTCCCAAGGAGCCTGCATCT c.1080
G P A L T T P K E P T P T T P K E P A S p.360
. . . . . . g.15574
ACCACACCCAAAGAGCCCACACCTACCACCATCAAGTCTGCACCCACCACCCCCAAGGAG c.1140
T T P K E P T P T T I K S A P T T P K E p.380
. . . . . . g.15634
CCTGCACCCACCACCACCAAGTCTGCACCCACCACTCCCAAGGAGCCTGCACCCACCACC c.1200
P A P T T T K S A P T T P K E P A P T T p.400
. . . . . . g.15694
ACCAAGGAGCCTGCACCCACCACTCCCAAGGAGCCTGCACCCACCACCACCAAGGAGCCT c.1260
T K E P A P T T P K E P A P T T T K E P p.420
. . . . . . g.15754
GCACCCACCACCACCAAGTCTGCACCCACCACTCCCAAGGAGCCTGCACCCACCACCCCC c.1320
A P T T T K S A P T T P K E P A P T T P p.440
. . . . . . g.15814
AAGAAGCCTGCCCCAACTACCCCCAAGGAGCCTGCACCCACCACTCCCAAGGAGCCTACA c.1380
K K P A P T T P K E P A P T T P K E P T p.460
. . . . . . g.15874
CCCACCACTCCCAAGGAGCCTGCACCCACCACCAAGGAGCCTGCACCCACCACTCCCAAA c.1440
P T T P K E P A P T T K E P A P T T P K p.480
. . . . . . g.15934
GAGCCTGCACCCACTGCCCCCAAGAAGCCTGCCCCAACTACCCCCAAGGAGCCTGCACCC c.1500
E P A P T A P K K P A P T T P K E P A P p.500
. . . . . . g.15994
ACCACTCCCAAGGAGCCTGCACCCACCACCACCAAGGAGCCTTCACCCACCACTCCCAAG c.1560
T T P K E P A P T T T K E P S P T T P K p.520
. . . . . . g.16054
GAGCCTGCACCCACCACCACCAAGTCTGCACCCACCACTACCAAGGAGCCTGCACCCACC c.1620
E P A P T T T K S A P T T T K E P A P T p.540
. . . . . . g.16114
ACTACCAAGTCTGCACCCACCACTCCCAAGGAGCCTTCACCCACCACCACCAAGGAGCCT c.1680
T T K S A P T T P K E P S P T T T K E P p.560
. . . . . . g.16174
GCACCCACCACTCCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC c.1740
A P T T P K E P A P T T P K K P A P T T p.580
. . . . . . g.16234
CCCAAGGAGCCTGCACCCACCACTCCCAAGGAACCTGCACCCACCACCACCAAGAAGCCT c.1800
P K E P A P T T P K E P A P T T T K K P p.600
. . . . . . g.16294
GCACCCACCACTCCCAAAGAGCCTGCCCCAACTACCCCCAAGGAGACTGCACCCACCACC c.1860
A P T T P K E P A P T T P K E T A P T T p.620
. . . . . . g.16354
CCCAAGAAGCTCACGCCCACCACCCCCGAGAAGCTCGCACCCACCACCCCTGAGAAGCCC c.1920
P K K L T P T T P E K L A P T T P E K P p.640
. . . . . . g.16414
GCACCCACCACCCCTGAGGAGCTCGCACCCACCACCCCTGAGGAGCCCACACCCACCACC c.1980
A P T T P E E L A P T T P E E P T P T T p.660
. . . . . . g.16474
CCTGAGGAGCCTGCTCCCACCACTCCCAAGGCAGCGGCTCCCAACACCCCTAAGGAGCCT c.2040
P E E P A P T T P K A A A P N T P K E P p.680
. . . . . . g.16534
GCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACC c.2100
A P T T P K E P A P T T P K E P A P T T p.700
. . . . . . g.16594
CCTAAGGAGACTGCTCCAACTACCCCTAAAGGGACTGCTCCAACTACCCTCAAGGAACCT c.2160
P K E T A P T T P K G T A P T T L K E P p.720
. . . . . . g.16654
GCACCCACTACTCCCAAGAAGCCTGCCCCCAAGGAGCTTGCACCCACCACCACCAAGGAG c.2220
A P T T P K K P A P K E L A P T T T K E p.740
. . . . . . g.16714
CCCACATCCACCACCTGTGACAAGCCCGCTCCAACTACCCCTAAGGGGACTGCTCCAACT c.2280
P T S T T C D K P A P T T P K G T A P T p.760
. . . . . . g.16774
ACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGGG c.2340
T P K E P A P T T P K E P A P T T P K G p.780
. . . . . . g.16834
ACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTCCCAAGAAGCCTGCCCCCAAG c.2400
T A P T T L K E P A P T T P K K P A P K p.800
. . . . . . g.16894
GAGCTTGCACCCACCACCACCAAGGGGCCCACATCCACCACCTCTGACAAGCCTGCTCCA c.2460
E L A P T T T K G P T S T T S D K P A P p.820
. . . . . . g.16954
ACTACACCTAAGGAGACTGCTCCAACTACCCCCAAGGAGCCTGCACCCACTACCCCCAAG c.2520
T T P K E T A P T T P K E P A P T T P K p.840
. . . . . . g.17014
AAGCCTGCTCCAACTACTCCTGAGACACCTCCTCCAACCACTTCAGAGGTCTCTACTCCA c.2580
K P A P T T P E T P P P T T S E V S T P p.860
. . . . . . g.17074
ACTACCACCAAGGAGCCTACCACTATCCACAAAAGCCCTGATGAATCAACTCCTGAGCTT c.2640
T T T K E P T T I H K S P D E S T P E L p.880
. . . . . . g.17134
TCTGCAGAACCCACACCAAAAGCTCTTGAAAACAGTCCCAAGGAACCTGGTGTACCTACA c.2700
S A E P T P K A L E N S P K E P G V P T p.900
. . . . . . g.17194
ACTAAGACTCCTGCAGCGACTAAACCTGAAATGACTACAACAGCTAAAGACAAGACAACA c.2760
T K T P A A T K P E M T T T A K D K T T p.920
. . . . . . g.17254
GAAAGAGACTTACGTACTACACCTGAAACTACAACTGCTGCACCTAAGATGACAAAAGAG c.2820
E R D L R T T P E T T T A A P K M T K E p.940
. . . . . . g.17314
ACAGCAACTACAACAGAAAAAACTACCGAATCCAAAATAACAGCTACAACCACACAAGTA c.2880
T A T T T E K T T E S K I T A T T T Q V p.960
. . . . . . g.17374
ACATCTACCACAACTCAAGATACCACACCATTCAAAATTACTACTCTTAAAACAACTACT c.2940
T S T T T Q D T T P F K I T T L K T T T p.980
. . . . . . g.17434
CTTGCACCCAAAGTAACTACAACAAAAAAGACAATTACTACCACTGAGATTATGAACAAA c.3000
L A P K V T T T K K T I T T T E I M N K p.1000
. . . . . . g.17494
CCTGAAGAAACAGCTAAACCAAAAGACAGAGCTACTAATTCTAAAGCGACAACTCCTAAA c.3060
P E E T A K P K D R A T N S K A T T P K p.1020
. . . . . . g.17554
CCTCAAAAGCCAACCAAAGCACCCAAAAAACCCACTTCTACCAAAAAGCCAAAAACAATG c.3120
P Q K P T K A P K K P T S T K K P K T M p.1040
. . . . . . g.17614
CCTAGAGTGAGAAAACCAAAGACGACACCAACTCCCCGCAAGATGACATCAACAATGCCA c.3180
P R V R K P K T T P T P R K M T S T M P p.1060
. . . . . . g.17674
GAATTGAACCCTACCTCAAGAATAGCAGAAGCCATGCTCCAAACCACCACCAGACCTAAC c.3240
E L N P T S R I A E A M L Q T T T R P N p.1080
. . . . . . g.17734
CAAACTCCAAACTCCAAACTAGTTGAAGTAAATCCAAAGAGTGAAGATGCAGGTGGTGCT c.3300
Q T P N S K L V E V N P K S E D A G G A p.1100
. . . . . . g.17794
GAAGGAGAAACACCTCATATGCTTCTCAGGCCCCATGTGTTCATGCCTGAAGTTACTCCC c.3360
E G E T P H M L L R P H V F M P E V T P p.1120
. . . . . . g.17854
GACATGGATTACTTACCGAGAGTACCCAATCAAGGCATTATCATCAATCCCATGCTTTCC c.3420
D M D Y L P R V P N Q G I I I N P M L S p.1140
| 08 . . . . . . g.18566
G | ATGAGACCAATATATGCAATGGTAAGCCAGTAGATGGACTGACTACTTTGCGCAATGGG c.3480
D | E T N I C N G K P V D G L T T L R N G p.1160
. | 09 . . . . g.19789
ACATTAGTTGCATTCCGAG | GTCATTATTTCTGGATGCTAAGTCCATTCAGTCCACCATCT c.3540
T L V A F R G | H Y F W M L S P F S P P S p.1180
. . . . . . g.19849
CCAGCTCGCAGAATTACTGAAGTTTGGGGTATTCCTTCCCCCATTGATACTGTTTTTACT c.3600
P A R R I T E V W G I P S P I D T V F T p.1200
. . . | 10 . . . g.20178
AGGTGCAACTGTGAAGGAAAAACTTTCTTCTTTAAG | GATTCTCAGTACTGGCGTTTTACC c.3660
R C N C E G K T F F F K | D S Q Y W R F T p.1220
. . . . . . g.20238
AATGATATAAAAGATGCAGGGTACCCCAAACCAATTTTCAAAGGATTTGGAGGACTAACT c.3720
N D I K D A G Y P K P I F K G F G G L T p.1240
. . . . . . g.20298
GGACAAATAGTGGCAGCGCTTTCAACAGCTAAATATAAGAACTGGCCTGAATCTGTGTAT c.3780
G Q I V A A L S T A K Y K N W P E S V Y p.1260
. | 11 . . . . . g.20936
TTTTTCAAGAGAG | GTGGCAGCATTCAGCAGTATATTTATAAACAGGAACCTGTACAGAAG c.3840
F F K R G | G S I Q Q Y I Y K Q E P V Q K p.1280
. . . . . . g.20996
TGCCCTGGAAGAAGGCCTGCTCTAAATTATCCAGTGTATGGAGAAACGACACAGGTTAGG c.3900
C P G R R P A L N Y P V Y G E T T Q V R p.1300
. . . . . . g.21056
AGACGTCGCTTTGAACGTGCTATAGGACCTTCTCAAACACACACCATCAGAATTCAATAT c.3960
R R R F E R A I G P S Q T H T I R I Q Y p.1320
. . . | 12 . . . g.21512
TCACCTGCCAGACTGGCTTATCAAGACAAAG | GTGTCCTTCATAATGAAGTTAAAGTGAGT c.4020
S P A R L A Y Q D K G | V L H N E V K V S p.1340
. . . . . . g.21572
ATACTGTGGAGAGGACTTCCAAATGTGGTTACCTCAGCTATATCACTGCCCAACATCAGA c.4080
I L W R G L P N V V T S A I S L P N I R p.1360
. . . | 13. . . g.22418
AAACCTGACGGCTATGATTACTATGCCTTTTCTAAAG | ATCAATACTATAACATTGATGTG c.4140
K P D G Y D Y Y A F S K D | Q Y Y N I D V p.1380
. . . . . . g.22478
CCTAGTAGAACAGCAAGAGCAATTACTACTCGTTCTGGGCAGACCTTATCCAAAGTCTGG c.4200
P S R T A R A I T T R S G Q T L S K V W p.1400
. g.22493
TACAACTGTCCTTAG c.4215
Y N C P X p.1404
. . . . . . g.22553
actgatgagcaaaggaggagtcaactaatgaagaaatgaataataaattttgacactgaa c.*60
. . . . . . g.22613
aaacattttattaataaagaatattgacatgagtataccagtttatatataaaaatgttt c.*120
. . . . . . g.22673
ttaaacttgacaatcattacactaaaacagatttgataatcttattcacagttgttattg c.*180
. . . . . . g.22733
tttacagaccatttaattaatatttcctctgtttattcctcctctccctcccattgcatg c.*240
. . . . . . g.22793
gctcacacctgtaaaagaaaaaagaatcaaattgaatatatcttttaagaattcaaaact c.*300
. . . . . . g.22853
agtgtattcacttaccctagttcattataaaaaatatctaggcattgtggatataaaact c.*360
. . . . . . g.22913
gttgggtattctacaacttcaatggaaattattacaagcagattaatccctctttttgtg c.*420
. . . . . . g.22973
acacaagtacaatctaaaagttatattggaaaacatggaaatattaaaattttacacttt c.*480
. . . . . . g.23033
tactagctaaaacataatcacaaagctttatcgtgttgtataaaaaaattaacaatataa c.*540
. . . . . . g.23093
tggcaataggtagagatacaacaaatgaatataacactataacacttcatattttccaaa c.*600
. . . . . . g.23153
tcttaatttggatttaaggaagaaatcaataaatataaaatataagcacatatttattat c.*660
. . . . . . g.23213
atatctaaggtatacaaatctgtctacatgaagtttacagattggtaaatatcacctgct c.*720
. . . . . g.23271
caacatgtaattatttaataaaactttggaacattaaaaaaataaattggaggcttaa c.*778
(downstream sequence)
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