(used for variant description)
(last modified July 12, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_138711.3 in the PPARG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering PPARG transcript NM_138711.3.
(upstream sequence)
. . . g.6121
ttggtggaaggtgggtgtgtagtcgtggtacttt c.-241
. . . . . . g.6181
acgcctcggtgtttagggaggagcctaaggtaaggagtcagaaacggggagtaaccgagc c.-181
. . . . . . g.6241
tgcggcttttatataaggtcagtggtaggtaaggaaggggccttaacctctgctggtgac c.-121
. . . . . | 02 . g.29546
cagaagcctgcatttctgcattctgcttaattccctttccttag | atttgaaagaagccaa c.-61
. . . . . . | 03 g.96856
cactaaaccacaaatatacaacaaggccattttctcaaacgagagtcagcctttaacg | aa c.-1
. . . . . . g.96916
ATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTG c.60
M T M V D T E M P F W P T N F G I S S V p.20
. . . . . . g.96976
GATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTT c.120
D L S V M E D H S H S F D I K P F T T V p.40
. . . . . . g.97036
GACTTCTCCAGCATTTCTACTCCACATTACGAAGACATTCCATTCACAAGAACAGATCCA c.180
D F S S I S T P H Y E D I P F T R T D P p.60
. . . . | 04 . . g.98486
GTGGTTGCAGATTACAAGTATGACCTGAAACTTCAAGAGTACCAAA | GTGCAATCAAAGTG c.240
V V A D Y K Y D L K L Q E Y Q S | A I K V p.80
. . . . . . g.98546
GAGCCTGCATCTCCACCTTATTATTCTGAGAAGACTCAGCTCTACAATAAGCCTCATGAA c.300
E P A S P P Y Y S E K T Q L Y N K P H E p.100
. . . . . . g.98606
GAGCCTTCCAACTCCCTCATGGCAATTGAATGTCGTGTCTGTGGAGATAAAGCTTCTGGA c.360
E P S N S L M A I E C R V C G D K A S G p.120
. . . | 05 . . . g.109788
TTTCACTATGGAGTTCATGCTTGTGAAGGATGCAAG | GGTTTCTTCCGGAGAACAATCAGA c.420
F H Y G V H A C E G C K | G F F R R T I R p.140
. . . . . . g.109848
TTGAAGCTTATCTATGACAGATGTGATCTTAACTGTCGGATCCACAAAAAAAGTAGAAAT c.480
L K L I Y D R C D L N C R I H K K S R N p.160
. . . . . | 06 . g.123037
AAATGTCAGTACTGTCGGTTTCAGAAATGCCTTGCAGTGGGGATGTCTCATAATG | CCATC c.540
K C Q Y C R F Q K C L A V G M S H N A | I p.180
. . . . . . g.123097
AGGTTTGGGCGGATGCCACAGGCCGAGAAGGAGAAGCTGTTGGCGGAGATCTCCAGTGAT c.600
R F G R M P Q A E K E K L L A E I S S D p.200
. . . . . . g.123157
ATCGACCAGCTGAATCCAGAGTCCGCTGACCTCCGGGCCCTGGCAAAACATTTGTATGAC c.660
I D Q L N P E S A D L R A L A K H L Y D p.220
. . . . . . g.123217
TCATACATAAAGTCCTTCCCGCTGACCAAAGCAAAGGCGAGGGCGATCTTGACAGGAAAG c.720
S Y I K S F P L T K A K A R A I L T G K p.240
. | 07 . . . . . g.133899
ACAACAGACAAATCA | CCATTCGTTATCTATGACATGAATTCCTTAATGATGGGAGAAGAT c.780
T T D K S | P F V I Y D M N S L M M G E D p.260
. . . . . . g.133959
AAAATCAAGTTCAAACACATCACCCCCCTGCAGGAGCAGAGCAAAGAGGTGGCCATCCGC c.840
K I K F K H I T P L Q E Q S K E V A I R p.280
. . . . . . g.134019
ATCTTTCAGGGCTGCCAGTTTCGCTCCGTGGAGGCTGTGCAGGAGATCACAGAGTATGCC c.900
I F Q G C Q F R S V E A V Q E I T E Y A p.300
. . . . . . g.134079
AAAAGCATTCCTGGTTTTGTAAATCTTGACTTGAACGACCAAGTAACTCTCCTCAAATAT c.960
K S I P G F V N L D L N D Q V T L L K Y p.320
. . . . . . g.134139
GGAGTCCACGAGATCATTTACACAATGCTGGCCTCCTTGATGAATAAAGATGGGGTTCTC c.1020
G V H E I I Y T M L A S L M N K D G V L p.340
. . . . . . g.134199
ATATCCGAGGGCCAAGGCTTCATGACAAGGGAGTTTCTAAAGAGCCTGCGAAAGCCTTTT c.1080
I S E G Q G F M T R E F L K S L R K P F p.360
. . . . . . g.134259
GGTGACTTTATGGAGCCCAAGTTTGAGTTTGCTGTGAAGTTCAATGCACTGGAATTAGAT c.1140
G D F M E P K F E F A V K F N A L E L D p.380
. . . . | 08 . . g.151062
GACAGCGACTTGGCAATATTTATTGCTGTCATTATTCTCAGTGGAG | ACCGCCCAGGTTTG c.1200
D S D L A I F I A V I I L S G D | R P G L p.400
. . . . . . g.151122
CTGAATGTGAAGCCCATTGAAGACATTCAAGACAACCTGCTACAAGCCCTGGAGCTCCAG c.1260
L N V K P I E D I Q D N L L Q A L E L Q p.420
. . . . . . g.151182
CTGAAGCTGAACCACCCTGAGTCCTCACAGCTGTTTGCCAAGCTGCTCCAGAAAATGACA c.1320
L K L N H P E S S Q L F A K L L Q K M T p.440
. . . . . . g.151242
GACCTCAGACAGATTGTCACGGAACACGTGCAGCTACTGCAGGTGATCAAGAAGACGGAG c.1380
D L R Q I V T E H V Q L L Q V I K K T E p.460
. . . . . g.151296
ACAGACATGAGTCTTCACCCGCTCCTGCAGGAGATCTACAAGGACTTGTACTAG c.1434
T D M S L H P L L Q E I Y K D L Y X p.477
. . . . . . g.151356
cagagagtcctgagccactgccaacatttcccttcttccagttgcactattctgagggaa c.*60
. . . . . . g.151416
aatctgacacctaagaaatttactgtgaaaaagcattttaaaaagaaaaggttttagaat c.*120
. . . . . . g.151476
atgatctattttatgcatattgtttataaagacacatttacaatttacttttaatattaa c.*180
. . . g.151507
aaattaccatattatgaaattgctgatagta c.*211
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30
©2004-2024 Leiden University Medical Center