(used for variant description)
(last modified November 25, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000243.2 in the MEFV gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007871.1, covering MEFV transcript NM_000243.2.
(upstream sequence)
. . . . g.5040
gaagccagacagctggctcgagcctctcctgctcagcacc c.-1
. . . . . . g.5100
ATGGCTAAGACCCCTAGTGACCATCTGCTGTCCACCCTGGAGGAGCTGGTGCCCTATGAC c.60
M A K T P S D H L L S T L E E L V P Y D p.20
. . . . . . g.5160
TTCGAGAAGTTCAAGTTCAAGCTGCAGAACACCAGTGTGCAGAAGGAGCACTCCAGGATC c.120
F E K F K F K L Q N T S V Q K E H S R I p.40
. . . . . . g.5220
CCCCGGAGCCAGATCCAGAGAGCCAGGCCGGTGAAGATGGCCACTCTGCTGGTCACCTAC c.180
P R S Q I Q R A R P V K M A T L L V T Y p.60
. . . . . . g.5280
TATGGGGAAGAGTACGCCGTGCAGCTCACCCTGCAGGTCCTGCGGGCCATCAACCAGCGC c.240
Y G E E Y A V Q L T L Q V L R A I N Q R p.80
. . . | 02. . . g.6860
CTGCTGGCCGAGGAGCTCCACAGGGCAGCCATTCAGG | AATATTCCACACAAGAAAACGGC c.300
L L A E E L H R A A I Q E | Y S T Q E N G p.100
. . . . . . g.6920
ACAGATGATTCCGCAGCGTCCAGCTCCCTGGGGGAGAACAAGCCCAGGAGCCTGAAGACT c.360
T D D S A A S S S L G E N K P R S L K T p.120
. . . . . . g.6980
CCAGACCACCCCGAGGGGAACGAGGGGAACGGCCCTCGGCCGTACGGGGGCGGAGCTGCC c.420
P D H P E G N E G N G P R P Y G G G A A p.140
. . . . . . g.7040
AGCCTGCGGTGCAGCCAGCCCGAGGCCGGGAGGGGGCTGTCGAGGAAGCCCCTGAGCAAA c.480
S L R C S Q P E A G R G L S R K P L S K p.160
. . . . . . g.7100
CGCAGAGAGAAGGCCTCGGAGGGCCTGGACGCGCAGGGCAAGCCTCGGACCCGGAGCCCG c.540
R R E K A S E G L D A Q G K P R T R S P p.180
. . . . . . g.7160
GCCCTGCCGGGCGGGAGAAGCCCCGGCCCCTGCAGGGCGCTAGAGGGGGGCCAGGCCGAG c.600
A L P G G R S P G P C R A L E G G Q A E p.200
. . . . . . g.7220
GTCCGGCTGCGCAGAAACGCCAGCTCCGCGGGGAGGCTGCAGGGGCTGGCGGGGGGCGCC c.660
V R L R R N A S S A G R L Q G L A G G A p.220
. . . . . . g.7280
CCGGGGCAGAAGGAGTGCAGGCCCTTCGAAGTGTACCTGCCCTCGGGAAAGATGCGACCT c.720
P G Q K E C R P F E V Y L P S G K M R P p.240
. . . . . . g.7340
AGAAGCCTTGAGGTCACCATTTCTACAGGGGAGAAGGCGCCCGCAAATCCAGAAATTCTC c.780
R S L E V T I S T G E K A P A N P E I L p.260
. . . . . . g.7400
CTGACTCTAGAGGAAAAGACAGCTGCGAATCTGGACTCGGCAACAGAACCCCGGGCAAGG c.840
L T L E E K T A A N L D S A T E P R A R p.280
. . . . . . g.7460
CCCACTCCGGATGGAGGGGCATCTGCGGACCTGAAGGAAGGCCCTGGAAATCCAGAACAT c.900
P T P D G G A S A D L K E G P G N P E H p.300
. | 03 . . . . . g.11897
TCGGTCACCG | GAAGGCCACCAGACACGGCTGCGAGTCCCCGCTGCCACGCCCAGGAAGGA c.960
S V T G | R P P D T A A S P R C H A Q E G p.320
. . . . . . g.11957
GACCCAGTTGACGGTACCTGTGTGCGTGATTCCTGCAGCTTCCCCGAGGCAGTTTCTGGG c.1020
D P V D G T C V R D S C S F P E A V S G p.340
. . . . . . g.12017
CACCCCCAGGCCTCAGGCAGCCGCTCACCTGGCTGCCCCCGGTGCCAGGACTCCCATGAA c.1080
H P Q A S G S R S P G C P R C Q D S H E p.360
. . . . . . g.12077
AGGAAGAGCCCGGGAAGCCTAAGCCCCCAGCCCCTGCCACAGTGTAAGCGCCACCTGAAG c.1140
R K S P G S L S P Q P L P Q C K R H L K p.380
. . . . . . g.12137
CAGGTCCAGCTGCTCTTCTGTGAGGATCACGATGAGCCCATCTGCCTCATCTGCAGTCTG c.1200
Q V Q L L F C E D H D E P I C L I C S L p.400
. . . . . . g.12197
AGTCAGGAGCACCAAGGCCACCGGGTGCGCCCCATTGAGGAGGTCGCCCTGGAACACAAG c.1260
S Q E H Q G H R V R P I E E V A L E H K p.420
| 04 . . . . . . g.12683
| AAGAAAATTCAGAAGCAGCTGGAGCATCTGAAGAAGCTGAGAAAATCAGGGGAGGAGCAG c.1320
| K K I Q K Q L E H L K K L R K S G E E Q p.440
. . . | 05 . . . g.14405
CGATCCTATGGGGAGGAGAAGGCAGTGAGCTTTCTG | AAACAAACTGAAGCGCTGAAGCAG c.1380
R S Y G E E K A V S F L | K Q T E A L K Q p.460
. . . . . . g.14465
CGGGTGCAGAGGAAGCTGGAGCAGGTGTACTACTTCCTGGAGCAGCAAGAGCATTTCTTT c.1440
R V Q R K L E Q V Y Y F L E Q Q E H F F p.480
. . . . . . g.14525
GTGGCCTCACTGGAGGACGTGGGCCAGATGGTTGGGCAGATCAGGAAGGCATATGACACC c.1500
V A S L E D V G Q M V G Q I R K A Y D T p.500
. . . . . . g.14585
CGCGTATCCCAGGACATCGCCCTGCTCGATGCGCTGATTGGGGAACTGGAGGCCAAGGAG c.1560
R V S Q D I A L L D A L I G E L E A K E p.520
. . | 06. . . | 07 . g.17049
TGCCAGTCAGAATGGGAACTTCTGCAG | GACATTGGAGACATCTTGCACAG | GGCTAAGACA c.1620
C Q S E W E L L Q | D I G D I L H R | A K T p.540
. . . . . . g.17109
GTGCCTGTCCCTGAAAAGTGGACCACTCCTCAAGAGATAAAACAAAAGATCCAACTCCTC c.1680
V P V P E K W T T P Q E I K Q K I Q L L p.560
. . . . | 08 . . g.17355
CACCAGAAGTCAGAGTTTGTGGAGAAGAGCACAAAGTACTTCTCAG | AAACCCTGCGTTCA c.1740
H Q K S E F V E K S T K Y F S E | T L R S p.580
. | 09 . . . | 10 . g.17941
GAAATGGAAATGTTCAATG | TTCCAGAGCTGATTGGCGCTCAGGCACATGCTG | TTAATGTG c.1800
E M E M F N V | P E L I G A Q A H A V | N V p.600
. . . . . . g.18001
ATTCTGGATGCAGAAACCGCTTACCCCAACCTCATCTTCTCTGATGATCTGAAGAGTGTT c.1860
I L D A E T A Y P N L I F S D D L K S V p.620
. . . . . . g.18061
AGACTTGGAAACAAGTGGGAGAGGCTGCCTGATGGCCCGCAAAGATTTGACAGCTGTATC c.1920
R L G N K W E R L P D G P Q R F D S C I p.640
. . . . . . g.18121
ATTGTTCTGGGCTCTCCGAGTTTCCTCTCTGGCCGCCGTTACTGGGAGGTGGAGGTTGGA c.1980
I V L G S P S F L S G R R Y W E V E V G p.660
. . . . . . g.18181
GACAAGACAGCATGGATCCTGGGAGCCTGCAAGACATCCATAAGCAGGAAAGGGAACATG c.2040
D K T A W I L G A C K T S I S R K G N M p.680
. . . . . . g.18241
ACTCTGTCGCCAGAGAATGGCTACTGGGTGGTGATAATGATGAAGGAAAATGAGTACCAG c.2100
T L S P E N G Y W V V I M M K E N E Y Q p.700
. . . . . . g.18301
GCGTCCAGCGTTCCCCCGACCCGCCTGCTAATAAAGGAGCCTCCCAAGCGTGTGGGCATC c.2160
A S S V P P T R L L I K E P P K R V G I p.720
. . . . . . g.18361
TTCGTGGACTACAGAGTTGGAAGCATCTCCTTTTACAATGTGACAGCCAGATCCCACATC c.2220
F V D Y R V G S I S F Y N V T A R S H I p.740
. . . . . . g.18421
TATACATTCGCCAGCTGCTCTTTCTCTGGGCCCCTTCAACCTATCTTCAGCCCTGGGACA c.2280
Y T F A S C S F S G P L Q P I F S P G T p.760
. . . . . . g.18481
CGTGATGGAGGGAAGAACACAGCTCCTCTGACTATCTGTCCAGTGGGTGGTCAGGGGCCT c.2340
R D G G K N T A P L T I C P V G G Q G P p.780
g.18487
GACTGA c.2346
D X p.781
. . . . . . g.18547
atgcccaacactgcatctctcttcctgcttctggccttgtatcttgcattcacactcaat c.*60
. . . . . . g.18607
agtcacggaatgccgactaggtgctagctgctatgggaaatgcaaaaataacaaaatagt c.*120
. . . . . . g.18667
tactgtgcccacggagcctacccgattatagcagaggtaagttaggaacgaacatgttag c.*180
. . . . . . g.18727
tcaatccgggtgaagacatgtactgatgacacaccatggatttcagaggaggaagtacgg c.*240
. . . . . . g.18787
agtcgttgcataatccgcccctggtgggtggcactctcaggtgctcctgaacagaagatt c.*300
. . . . . . g.18847
tggccctcattttccctcagaaccccacggcaaggatatatgtccccttgttctctctgc c.*360
. . . . . . g.18907
ttctgtcttgaggatatgggaagcctagagaaacgcaagcagactggattgggatagaag c.*420
. . . . . . g.18967
tatttgtgtacctggattaatgaactatgattttttttttttttttttgagaccaaatct c.*480
. . . . . . g.19027
tgctctgtggcccaggctggagtgcagtggcacgatctcagctcactgcaacctccacct c.*540
. . . . . . g.19087
cccaggttcaagcgattctcctgcctcagcctcctgagcagctgggattacaggtgcgtg c.*600
. . . . . . g.19147
ccaccacaccaggctggttttcttgtatttttagtagagacgggggtttcaccatgttag c.*660
. . . . . . g.19207
ccaggctggtctcgaactcctgacctcaggtgatccacccgcctcagcctcccaaagtgc c.*720
. . . . . . g.19267
tgggattacaggcatgagccactgtgcccggcctatgattcttttttttttttttttttg c.*780
. . . . . . g.19327
agacaaagttttgctcttgtcacccaggctggagtgcagtggtgcaatcttggctcgcaa c.*840
. . . . . . g.19387
cctccgcctcccaggttcaagagattctcctgcctcagcctccgaagtagctgggattac c.*900
. . . . . . g.19447
aggcgcccgccaccatgcccggctaattttttgcatttttagtagacatgaggtttcatc c.*960
. . . . . . g.19507
atgttggccaggccggtctcaaactcctgacctcaggtgatgcacccacctcagcctccc c.*1020
. . . . . . g.19567
aaagtgcagggattacaggcatgagccaccatgccgggccatgattcttaagagaattga c.*1080
. . . g.19600
ctgggcctcatgaataaaaaaattagaaaatct c.*1113
(downstream sequence)
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