(used for variant description)
(last modified January 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_030973.3 in the MED25 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017091.1, covering MED25 transcript NM_030973.3.
(upstream sequence)
g.5003
att c.-61
. . . . . . g.5063
tctgctcattccgcggcgtcggctgcggctgcagtggtggtggcgggtaccgcacggggt c.-1
. . . . . . g.5123
ATGGTCCCCGGGTCCGAGGGCCCGGCCCGCGCCGGGAGCGTGGTGGCCGACGTGGTGTTT c.60
M V P G S E G P A R A G S V V A D V V F p.20
. . . . . . g.5183
GTGATTGAGGGTACGGCCAACCTGGGACCCTACTTCGAGGGGCTCCGCAAGCACTACCTG c.120
V I E G T A N L G P Y F E G L R K H Y L p.40
. | 02 . . . . . g.5338
CTCCCGGCCATCGA | GTATTTTAATGGTGGTCCTCCTGCTGAGACGGACTTCGGGGGAGAC c.180
L P A I E | Y F N G G P P A E T D F G G D p.60
| 03 . . . . . . g.5953
| TATGGGGGGACCCAGTACAGCCTCGTGGTGTTCAACACAGTGGACTGCGCTCCCGAGTCC c.240
| Y G G T Q Y S L V V F N T V D C A P E S p.80
. . . . . . g.6013
TACGTACAATGTCACGCTCCCACCAGCAGCGCCTATGAGTTTGTCACCTGGCTCGATGGC c.300
Y V Q C H A P T S S A Y E F V T W L D G p.100
| 04 . . . . . . g.15225
ATTAA | GTTCATGGGCGGGGGTGGTGAGAGCTGCAGCCTCATCGCGGAAGGACTCAGCACA c.360
I K | F M G G G G E S C S L I A E G L S T p.120
. . . . | 05 . . g.15707
GCCTTGCAGCTGTTTGATGACTTCAAGAAGATGCGCGAGCAGAT | TGGCCAGACGCACCGG c.420
A L Q L F D D F K K M R E Q I | G Q T H R p.140
. . . . . . g.15767
GTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACG c.480
V C L L I C N S P P Y L L P A V E S T T p.160
. . . . | 06 . . g.16522
TACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAG | CGGGGGATCCACTTC c.540
Y S G C T T E N L V Q Q I G E | R G I H F p.180
. . . . . . g.16582
TCCATTGTGTCTCCCCGGAAGCTGCCTGCGCTTCGGCTTCTGTTTGAGAAGGCAGCCCCC c.600
S I V S P R K L P A L R L L F E K A A P p.200
. . . . . . g.16642
CCGGCCTTGCTGGAGCCGCTGCAGCCTCCGACAGATGTGAGCCAGGACCCGAGGCACATG c.660
P A L L E P L Q P P T D V S Q D P R H M p.220
. . | 07 . . . g.16841
GTGCTGGTTCGGGGACTCGTGCTGCCTG | TTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAG c.720
V L V R G L V L P V | G G G S A P G P L Q p.240
. . . . . . g.16901
TCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCC c.780
S K Q P V P L P P A A P S G A T L S A A p.260
. . . | 08 . . g.17253
CCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAG | GTTCCCGGGAACCTGAGTGCA c.840
P Q Q P L P P V P P Q Y Q | V P G N L S A p.280
. . . . . . g.17313
GCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGC c.900
A Q V A A Q N A V E A A K N Q K A G L G p.300
| 09. . . . . . g.17468
CCTCGCT | TCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTC c.960
P R F | S P I T P L Q Q A A P G V G P P F p.320
. . . . . . g.17528
AGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCT c.1020
S Q A P A P Q L P P G P P G A P K P P P p.340
. . . . . . g.17588
GCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCA c.1080
A S Q P S L V S T V A P G S G L A P T A p.360
. . | 10 . . . . g.18093
CAGCCCGGGGCACCGTCCATG | GCAGGCACTGTGGCCCCAGGAGGGGTGAGCGGCCCTTCC c.1140
Q P G A P S M | A G T V A P G G V S G P S p.380
. . . . . . g.18153
CCAGCCCAGCTGGGAGCCCCAGCCCTCGGTGGGCAGCAGTCAGTCTCCAATAAGCTTCTG c.1200
P A Q L G A P A L G G Q Q S V S N K L L p.400
. . . | 11 . . . g.18687
GCCTGGAGCGGGGTCCTGGAGTGGCAAGAG | AAACCCAAACCTGCCTCAGTGGATGCCAAC c.1260
A W S G V L E W Q E | K P K P A S V D A N p.420
. . . . . | 12 . g.18825
ACCAAGCTGACGCGGTCACTGCCCTGCCAGGTCTACGTGAATCATGGCGAGAACCT | GAAG c.1320
T K L T R S L P C Q V Y V N H G E N L | K p.440
. . . . . | 13 . g.19035
ACGGAGCAGTGGCCCCAGAAGCTGATCATGCAGCTCATCCCCCAGCAGCTGCTG | ACCACC c.1380
T E Q W P Q K L I M Q L I P Q Q L L | T T p.460
. . . . . . g.19095
CTGGGCCCTTTGTTCCGGAACTCAAGGATGGTCCAGTTCCATTTCACCAACAAGGACCTG c.1440
L G P L F R N S R M V Q F H F T N K D L p.480
. . . . | 14 . . g.21725
GAGTCTCTCAAAGGCCTCTACCGCATCATGGGCAACGGCTTC | GCGGGCTGCGTGCACTTC c.1500
E S L K G L Y R I M G N G F | A G C V H F p.500
. . . . . . g.21785
CCCCACACGGCGCCCTGTGAGGTGCGCGTGCTCATGCTCCTGTACTCGTCCAAGAAGAAG c.1560
P H T A P C E V R V L M L L Y S S K K K p.520
. . . . . . g.21845
ATCTTCATGGGCCTCATCCCCTACGACCAGAGCGGCTTCGTCAACGGCATCCGGCAGGTC c.1620
I F M G L I P Y D Q S G F V N G I R Q V p.540
. . . . . | 15 . g.22261
ATCACCAACCACAAGCAGGTCCAGCAGCAGAAGCTGGAGCAGCAGCAGCGAGGA | ATGGGG c.1680
I T N H K Q V Q Q Q K L E Q Q Q R G | M G p.560
. . . . . . g.22321
GGACAGCAGGCACCCCCAGGGCTGGGGCCCATTCTGGAGGACCAAGCCAGGCCCTCACAG c.1740
G Q Q A P P G L G P I L E D Q A R P S Q p.580
| 16 . . . . . . g.22502
AATCTG | CTCCAGCTCCGCCCACCGCAGCCCCAGCCTCAGGGTACCGTAGGGGCCTCTGGG c.1800
N L | L Q L R P P Q P Q P Q G T V G A S G p.600
. . . . . . g.22562
GCCACGGGGCAGCCCCAGCCCCAAGGTACTGCCCAGCCCCCGCCAGGTGCCCCTCAAGGC c.1860
A T G Q P Q P Q G T A Q P P P G A P Q G p.620
. . . . . . g.22622
CCTCCTGGAGCAGCTTCTGGCCCACCCCCTCCTGGACCCATCCTTCGGCCCCAGAACCCT c.1920
P P G A A S G P P P P G P I L R P Q N P p.640
. . . . | 17 . . g.22962
GGGGCCAACCCTCAGCTGCGAAGCCTCCTCCTCAACCCACCACCG | CCGCAGACTGGGGTG c.1980
G A N P Q L R S L L L N P P P | P Q T G V p.660
. . . . . . g.23022
CCCCCACCCCAGGCCTCCCTCCACCACCTCCAGCCACCAGGGGCTCCTGCGCTGCTGCCT c.2040
P P P Q A S L H H L Q P P G A P A L L P p.680
. . . . . . g.23082
CCGCCGCACCAGGGCCTGGGGCAGCCCCAGTTGGGGCCCCCACTCCTGCATCCACCACCT c.2100
P P H Q G L G Q P Q L G P P L L H P P P p.700
. . . . | 18 . . g.23582
GCCCAGTCCTGGCCCGCACAACTTCCCCCTCGGGCTCCACTGCCAG | GTCAGATGCTGCTG c.2160
A Q S W P A Q L P P R A P L P G | Q M L L p.720
. . . . . . g.23642
AGCGGGGGTCCCCGGGGCCCGGTCCCCCAGCCGGGCCTGCAGCCCAGCGTCATGGAGGAC c.2220
S G G P R G P V P Q P G L Q P S V M E D p.740
. . g.23666
GACATCCTCATGGATCTCATCTGA c.2244
D I L M D L I X p.747
. . . g.23702
atccccaacacccaataaagttcctttttaacacac c.*36
(downstream sequence)
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