(used for variant description)
(last modified May 27, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_153447.4 in the NLRP5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_046924.1, covering NLRP5 transcript NM_153447.4.
(upstream sequence)
. . . . . . g.60
ATGAAGGTTGCAGGAGGACTTGAACTTGGAGCTGCTGCTCTGCTCTCAGCATCACCACGT c.60
M K V A G G L E L G A A A L L S A S P R p.20
| 02 . . . . . . g.4048
GC | TCTTGTCACTCTTTCCACAGGTCCTACTTGCTCTATATTACCAAAGAATCCACTTTTC c.120
A | L V T L S T G P T C S I L P K N P L F p.40
. . . . . . g.4108
CCCCAAAACCTGAGCTCTCAGCCTTGTATCAAGATGGAAGGAGACAAATCGCTCACCTTT c.180
P Q N L S S Q P C I K M E G D K S L T F p.60
. . . . . . g.4168
TCCAGCTACGGGCTGCAATGGTGTCTCTATGAGCTAGACAAGGAAGAATTTCAGACATTC c.240
S S Y G L Q W C L Y E L D K E E F Q T F p.80
. . . . . . g.4228
AAGGAATTACTAAAGAAGAAATCTTCAGAATCGACCACATGCTCTATTCCACAGTTTGAA c.300
K E L L K K K S S E S T T C S I P Q F E p.100
. . . . . . g.4288
ATCGAGAATGCCAACGTGGAATGTCTGGCACTCCTCTTGCATGAGTATTATGGAGCATCG c.360
I E N A N V E C L A L L L H E Y Y G A S p.120
. . . . . . g.4348
CTGGCCTGGGCTACGTCCATTAGCATCTTTGAAAACATGAACCTGCGAACCCTCTCGGAG c.420
L A W A T S I S I F E N M N L R T L S E p.140
. . | 03 . . . . g.9100
AAGGCACGGGATGACATGAAAA | GACATTCACCAGAAGATCCTGAAGCAACGATGACTGAC c.480
K A R D D M K R | H S P E D P E A T M T D p.160
. . | 04 . . . g.16048
CAAGGACCAAGCAAGGAAAAAGTGCCAG | GAATTTCACAAGCTGTGCAACAAGATAGTGCC c.540
Q G P S K E K V P G | I S Q A V Q Q D S A p.180
. . | 05 . . . . g.19651
ACAGCTGCAGAGACAAAAGAACAAG | AAATTTCACAAGCTATGGAACAAGAAGGTGCCACA c.600
T A A E T K E Q E | I S Q A M E Q E G A T p.200
. . | 06 . . . . g.20687
GCAGCAGAGACAGAAGAACAAG | AAATTTCACAAGCTATGGAACAAGAAGGTGCCACAGCA c.660
A A E T E E Q E | I S Q A M E Q E G A T A p.220
. | 07 . . . . g.27228
GCAGAGACAGAAGAACAAG | GACATGGAGGTGACACATGGGACTACAAGAGTCACGTGATG c.720
A E T E E Q G | H G G D T W D Y K S H V M p.240
. . . . . . g.27288
ACCAAATTCGCTGAGGAGGAGGATGTACGTCGTAGTTTTGAAAACACTGCTGCTGACTGG c.780
T K F A E E E D V R R S F E N T A A D W p.260
. . . . . . g.27348
CCGGAAATGCAAACGTTGGCTGGTGCTTTTGATTCAGACCGGTGGGGCTTCCGGCCTCGC c.840
P E M Q T L A G A F D S D R W G F R P R p.280
. . . . . . g.27408
ACGGTGGTTCTGCACGGAAAGTCAGGAATTGGGAAATCGGCTCTAGCCAGAAGGATCGTG c.900
T V V L H G K S G I G K S A L A R R I V p.300
. . . . . . g.27468
CTGTGCTGGGCGCAAGGTGGACTCTACCAGGGAATGTTCTCCTACGTCTTCTTCCTCCCC c.960
L C W A Q G G L Y Q G M F S Y V F F L P p.320
. . . . . . g.27528
GTTAGAGAGATGCAGCGGAAGAAGGAGAGCAGTGTCACAGAGTTCATCTCCAGGGAGTGG c.1020
V R E M Q R K K E S S V T E F I S R E W p.340
. . . . . . g.27588
CCAGACTCCCAGGCTCCGGTGACGGAGATCATGTCCCGACCAGAAAGGCTGTTGTTCATC c.1080
P D S Q A P V T E I M S R P E R L L F I p.360
. . . . . . g.27648
ATTGACGGTTTCGATGACCTGGGCTCTGTCCTCAACAATGACACAAAGCTCTGCAAAGAC c.1140
I D G F D D L G S V L N N D T K L C K D p.380
. . . . . . g.27708
TGGGCTGAGAAGCAGCCTCCGTTCACCCTCATACGCAGTCTGCTGAGGAAGGTCCTGCTC c.1200
W A E K Q P P F T L I R S L L R K V L L p.400
. . . . . . g.27768
CCTGAGTCCTTCCTGATCGTCACCGTCAGAGACGTGGGCACAGAGAAGCTCAAGTCAGAG c.1260
P E S F L I V T V R D V G T E K L K S E p.420
. . . . . . g.27828
GTCGTGTCTCCCCGTTACCTGTTAGTTAGAGGAATCTCCGGGGAACAAAGAATCCACTTG c.1320
V V S P R Y L L V R G I S G E Q R I H L p.440
. . . . . . g.27888
CTCCTTGAGCGCGGGATTGGTGAGCATCAGAAGACACAAGGGTTGCGTGCGATCATGAAC c.1380
L L E R G I G E H Q K T Q G L R A I M N p.460
. . . . . . g.27948
AACCGTGAGCTGCTCGACCAGTGCCAGGTGCCCGCCGTGGGCTCTCTCATCTGCGTGGCC c.1440
N R E L L D Q C Q V P A V G S L I C V A p.480
. . . . . . g.28008
CTGCAGCTGCAGGACGTGGTGGGGGAGAGCGTCGCCCCCTTCAACCAAACGCTCACAGGC c.1500
L Q L Q D V V G E S V A P F N Q T L T G p.500
. . . . . . g.28068
CTGCACGCCGCTTTTGTGTTTCATCAGCTCACCCCTCGAGGCGTGGTCCGGCGCTGTCTC c.1560
L H A A F V F H Q L T P R G V V R R C L p.520
. . . . . . g.28128
AATCTGGAGGAAAGAGTTGTCCTGAAGCGCTTCTGCCGTATGGCTGTGGAGGGAGTGTGG c.1620
N L E E R V V L K R F C R M A V E G V W p.540
. . . . . . g.28188
AATAGGAAGTCAGTGTTTGACGGTGACGACCTCATGGTTCAAGGACTCGGGGAGTCTGAG c.1680
N R K S V F D G D D L M V Q G L G E S E p.560
. . . . . . g.28248
CTCCGTGCTCTGTTTCACATGAACATCCTTCTCCCAGACAGCCACTGTGAGGAGTACTAC c.1740
L R A L F H M N I L L P D S H C E E Y Y p.580
. . . . . . g.28308
ACCTTCTTCCACCTCAGTCTCCAGGACTTCTGTGCCGCCTTGTACTACGTGTTAGAGGGC c.1800
T F F H L S L Q D F C A A L Y Y V L E G p.600
. . . . . . g.28368
CTGGAAATCGAGCCAGCTCTCTGCCCTCTGTACGTTGAGAAGACAAAGAGGTCCATGGAG c.1860
L E I E P A L C P L Y V E K T K R S M E p.620
. . . . . . g.28428
CTTAAACAGGCAGGCTTCCATATCCACTCGCTTTGGATGAAGCGTTTCTTGTTTGGCCTC c.1920
L K Q A G F H I H S L W M K R F L F G L p.640
. . . . . . g.28488
GTGAGCGAAGACGTAAGGAGGCCACTGGAGGTCCTGCTGGGCTGTCCCGTTCCCCTGGGG c.1980
V S E D V R R P L E V L L G C P V P L G p.660
. . . . . . g.28548
GTGAAGCAGAAGCTTCTGCACTGGGTCTCTCTGTTGGGTCAGCAGCCTAATGCCACCACC c.2040
V K Q K L L H W V S L L G Q Q P N A T T p.680
. . . . . . g.28608
CCAGGAGACACCCTGGACGCCTTCCACTGTCTTTTCGAGACTCAAGACAAAGAGTTTGTT c.2100
P G D T L D A F H C L F E T Q D K E F V p.700
. . . . . . g.28668
CGCTTGGCATTAAACAGCTTCCAAGAAGTGTGGCTTCCGATTAACCAGAACCTGGACTTG c.2160
R L A L N S F Q E V W L P I N Q N L D L p.720
. . . . . . g.28728
ATAGCATCTTCCTTCTGCCTCCAGCACTGTCCGTATTTGCGGAAAATTCGGGTGGATGTC c.2220
I A S S F C L Q H C P Y L R K I R V D V p.740
. . . . . | 08 . g.32889
AAAGGGATCTTCCCAAGAGATGAGTCCGCTGAGGCATGTCCTGTGGTCCCTCTATG | GATG c.2280
K G I F P R D E S A E A C P V V P L W | M p.760
. . . . . . g.32949
CGGGATAAGACCCTCATTGAGGAGCAGTGGGAAGATTTCTGCTCCATGCTTGGCACCCAC c.2340
R D K T L I E E Q W E D F C S M L G T H p.780
. . . . . . g.33009
CCACACCTGCGGCAGCTGGACCTGGGCAGCAGCATCCTGACAGAGCGGGCCATGAAGACC c.2400
P H L R Q L D L G S S I L T E R A M K T p.800
. . . . | 09. . g.33829
CTGTGTGCCAAGCTGAGGCATCCCACCTGCAAGATACAGACCCTGAT | GTTTAGAAATGCA c.2460
L C A K L R H P T C K I Q T L M | F R N A p.820
. . . . . . g.33889
CAGATTACCCCTGGTGTGCAGCACCTCTGGAGAATCGTCATGGCCAACCGTAACCTAAGA c.2520
Q I T P G V Q H L W R I V M A N R N L R p.840
. . . . . . g.33949
TCCCTCAACTTGGGAGGCACCCACCTGAAGGAAGAGGATGTAAGGATGGCGTGTGAAGCC c.2580
S L N L G G T H L K E E D V R M A C E A p.860
. . . | 10 . . . g.38324
TTAAAACACCCAAAATGTTTGTTGGAGTCTTTGAG | GCTGGATTGCTGTGGATTGACCCAT c.2640
L K H P K C L L E S L R | L D C C G L T H p.880
. . . . . . g.38384
GCCTGTTACCTGAAGATCTCCCAAATCCTTACGACCTCCCCCAGCCTGAAATCTCTGAGC c.2700
A C Y L K I S Q I L T T S P S L K S L S p.900
. . . . . . g.38444
CTGGCAGGAAACAAGGTGACAGACCAGGGAGTAATGCCTCTCAGTGATGCCTTGAGAGTC c.2760
L A G N K V T D Q G V M P L S D A L R V p.920
. . | 11 . . . . g.41230
TCCCAGTGCGCCCTGCAGAAGCTGAT | ACTGGAGGACTGTGGCATCACAGCCACGGGTTGC c.2820
S Q C A L Q K L I | L E D C G I T A T G C p.940
. . . . . . g.41290
CAGAGTCTGGCCTCAGCCCTCGTCAGCAACCGGAGCTTGACACACCTGTGCCTATCCAAC c.2880
Q S L A S A L V S N R S L T H L C L S N p.960
. . . . . . g.41350
AACAGCCTGGGGAACGAAGGTGTAAATCTACTGTGTCGATCCATGAGGCTTCCCCACTGT c.2940
N S L G N E G V N L L C R S M R L P H C p.980
. | 12. . . . . g.50735
AGTCTGCAGAGGCTGAT | GCTGAATCAGTGCCACCTGGACACGGCTGGCTGTGGTTTTCTT c.3000
S L Q R L M | L N Q C H L D T A G C G F L p.1000
. . . . . . g.50795
GCACTTGCGCTTATGGGTAACTCATGGCTGACGCACCTGAGCCTTAGCATGAACCCTGTG c.3060
A L A L M G N S W L T H L S L S M N P V p.1020
. . . . . . g.50855
GAAGACAATGGCGTGAAGCTTCTGTGCGAGGTCATGAGAGAACCATCTTGTCATCTCCAG c.3120
E D N G V K L L C E V M R E P S C H L Q p.1040
| 13 . . . . . g.53964
GACCTGGA | GTTGGTAAAGTGTCATCTCACCGCCGCGTGCTGTGAGAGTCTGTCCTGTGTG c.3180
D L E | L V K C H L T A A C C E S L S C V p.1060
. . . . . . g.54024
ATCTCGAGGAGCAGACACCTGAAGAGCCTGGATCTCACGGACAATGCCCTGGGTGACGGT c.3240
I S R S R H L K S L D L T D N A L G D G p.1080
. . . . . | 14 g.58515
GGGGTTGCTGCGCTGTGCGAGGGACTGAAGCAAAAGAACAGTGTTCTGGCGAGACTCGG | G c.3300
G V A A L C E G L K Q K N S V L A R L G | p.1100
. . . . . . g.58575
TTGAAGGCATGTGGACTGACTTCTGATTGCTGTGAGGCACTCTCCTTGGCCCTTTCCTGC c.3360
L K A C G L T S D C C E A L S L A L S C p.1120
. . . . . . g.58635
AACCGGCATCTGACCAGTCTAAACCTGGTGCAGAATAACTTCAGTCCCAAAGGAATGATG c.3420
N R H L T S L N L V Q N N F S P K G M M p.1140
. . . . . | 15 . g.61680
AAGCTGTGTTCGGCCTTTGCCTGTCCCACGTCTAACTTACAGATAATTGG | GCTGTGGAAA c.3480
K L C S A F A C P T S N L Q I I G | L W K p.1160
. . . . . . g.61740
TGGCAGTACCCTGTGCAAATAAGGAAGCTGCTGGAGGAAGTGCAGCTACTCAAGCCCCGA c.3540
W Q Y P V Q I R K L L E E V Q L L K P R p.1180
. . . . . . g.61800
GTCGTAATTGACGGTAGTTGGCATTCTTTTGATGAAGATGACCGGTACTGGTGGAAAAAC c.3600
V V I D G S W H S F D E D D R Y W W K N p.1200
g.61803
TGA c.3603
X p.1200
. . . . . . g.61863
agatacggaaacctgccccactcacacccatctgatggaggaactttaaacgctgttttc c.*60
. . . . . . g.61923
tcagagcaagctatgcacctgggagttccttctcaaagatggagaatgatttctgattct c.*120
. . . . . . g.61983
cacaaagccctcaatggtagtgattcttctgtgttcactctacgttggttactggatttg c.*180
. . . . . . g.62043
aaggctagagaccttcaagtcataggactcagtatctgtgaaatgtccgtcatatctcag c.*240
. . . . g.62085
agcatatagagggaattaaataaacacaaagcatttggaaaa c.*282
(downstream sequence)
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