(used for variant description)
(last modified September 27, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_002454.2 in the MTRR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering MTRR transcript NM_002454.2.
(upstream sequence)
. g.5017
ggagctttctattggtc c.-121
. . . . . . g.5077
ctgggtaccgagcatgggcgctgcgtcagtgcgcgctggcgcaaggttggtggaagtcgc c.-61
. . . . | 02 . . g.6691
gttgtgcaggttcgtgcccggctggcgcggcgtgg | tttcactgttacatgccttgaagtg c.-1
. . . . . . g.6751
ATGAGGAGGTTTCTGTTACTATATGCTACACAGCAGGGACAGGCAAAGGCCATCGCAGAA c.60
M R R F L L L Y A T Q Q G Q A K A I A E p.20
. . . . . . g.6811
GAAATATGTGAGCAAGCTGTGGTACATGGATTTTCTGCAGATCTTCACTGTATTAGTGAA c.120
E I C E Q A V V H G F S A D L H C I S E p.40
| 03 . . . . . g.9320
TCCGATAAG | TATGACCTAAAAACCGAAACAGCTCCTCTTGTTGTTGTGGTTTCTACCACG c.180
S D K | Y D L K T E T A P L V V V V S T T p.60
. . . . . . g.9380
GGCACCGGAGACCCACCCGACACAGCCCGCAAGTTTGTTAAGGAAATACAGAACCAAACA c.240
G T G D P P D T A R K F V K E I Q N Q T p.80
. . . . | 04 . . g.11171
CTGCCGGTTGATTTCTTTGCTCACCTGCGGTATGGGTTACTGG | GTCTCGGTGATTCAGAA c.300
L P V D F F A H L R Y G L L G | L G D S E p.100
. . . . . . g.11231
TACACCTACTTTTGCAATGGGGGGAAGATAATTGATAAACGACTTCAAGAGCTTGGAGCC c.360
Y T Y F C N G G K I I D K R L Q E L G A p.120
. . . . | 05 . . g.13859
CGGCATTTCTATGACACTGGACATGCAGATGACTGTGTAGG | TTTAGAACTTGTGGTTGAG c.420
R H F Y D T G H A D D C V G | L E L V V E p.140
. . . . . . g.13919
CCGTGGATTGCTGGACTCTGGCCAGCCCTCAGAAAGCATTTTAGGTCAAGCAGAGGACAA c.480
P W I A G L W P A L R K H F R S S R G Q p.160
. . . . . . g.13979
GAGGAGATAAGTGGCGCACTCCCGGTGGCATCACCTGCATCCTCGAGGACAGACCTTGTG c.540
E E I S G A L P V A S P A S S R T D L V p.180
. . . . . . g.14039
AAGTCAGAGCTGCTACACATTGAATCTCAAGTCGAGCTTCTGAGATTCGATGATTCAGGA c.600
K S E L L H I E S Q V E L L R F D D S G p.200
. . . . . . g.14099
AGAAAGGATTCTGAGGTTTTGAAGCAAAATGCAGTGAACAGCAACCAATCCAATGTTGTA c.660
R K D S E V L K Q N A V N S N Q S N V V p.220
. . . . . . g.14159
ATTGAAGACTTTGAGTCCTCACTTACCCGTTCGGTACCCCCACTCTCACAAGCCTCTCTG c.720
I E D F E S S L T R S V P P L S Q A S L p.240
. . . . . . g.14219
AATATTCCTGGTTTACCCCCAGAATATTTACAGGTACATCTGCAGGAGTCTCTTGGCCAG c.780
N I P G L P P E Y L Q V H L Q E S L G Q p.260
| 06 . . . . . . g.19111
| GAGGAAAGCCAAGTATCTGTGACTTCAGCAGATCCAGTTTTTCAAGTGCCAATTTCAAAG c.840
| E E S Q V S V T S A D P V F Q V P I S K p.280
. . . . . . g.19171
GCAGTTCAACTTACTACGAATGATGCCATAAAAACCACTCTGCTGGTAGAATTGGACATT c.900
A V Q L T T N D A I K T T L L V E L D I p.300
| 07 . . . . . . g.21654
TCA | AATACAGACTTTTCCTATCAGCCTGGAGATGCCTTCAGCGTGATCTGCCCTAACAGT c.960
S | N T D F S Y Q P G D A F S V I C P N S p.320
. . . . . . g.21714
GATTCTGAGGTACAAAGCCTACTCCAAAGACTGCAGCTTGAAGATAAAAGAGAGCACTGC c.1020
D S E V Q S L L Q R L Q L E D K R E H C p.340
. . . | 08. . . g.22534
GTCCTTTTGAAAATAAAGGCAGACACAAAGAAGAAAG | GAGCTACCTTACCCCAGCATATA c.1080
V L L K I K A D T K K K G | A T L P Q H I p.360
. . . . . . g.22594
CCTGCGGGATGTTCTCTCCAGTTCATTTTTACCTGGTGTCTTGAAATCCGAGCAATTCCT c.1140
P A G C S L Q F I F T W C L E I R A I P p.380
| 09 . . . . . . g.25045
AAAAAG | GCATTTTTGCGAGCCCTTGTGGACTATACCAGTGACAGTGCTGAAAAGCGCAGG c.1200
K K | A F L R A L V D Y T S D S A E K R R p.400
. . . . . . g.25105
CTACAGGAGCTGTGCAGTAAACAAGGGGCAGCCGATTATAGCCGCTTTGTACGAGATGCC c.1260
L Q E L C S K Q G A A D Y S R F V R D A p.420
. . . . . . g.25165
TGTGCCTGCTTGTTGGATCTCCTCCTCGCTTTCCCTTCTTGCCAGCCACCACTCAGTCTC c.1320
C A C L L D L L L A F P S C Q P P L S L p.440
| 10. . . . . | 11 . g.28633
CTGCTCG | AACATCTTCCTAAACTTCAACCCAGACCATATTCGTGTGCAAG | CTCAAGTTTA c.1380
L L E | H L P K L Q P R P Y S C A S | S S L p.460
. . . . . . g.28693
TTTCACCCAGGAAAGCTCCATTTTGTCTTCAACATTGTGGAATTTCTGTCTACTGCCACA c.1440
F H P G K L H F V F N I V E F L S T A T p.480
. . . . . . g.28753
ACAGAGGTTCTGCGGAAGGGAGTATGTACAGGCTGGCTGGCCTTGTTGGTTGCTTCAGTT c.1500
T E V L R K G V C T G W L A L L V A S V p.500
. . . . . | 12. g.31633
CTTCAGCCAAACATACATGCATCCCATGAAGACAGCGGGAAAGCCCTGGCTCCTAAG | ATA c.1560
L Q P N I H A S H E D S G K A L A P K | I p.520
. . . . . . g.31693
TCCATCTCTCCTCGAACAACAAATTCTTTCCACTTACCAGATGACCCCTCAATCCCCATC c.1620
S I S P R T T N S F H L P D D P S I P I p.540
. . . . . | 13 . g.32764
ATAATGGTGGGTCCAGGAACCGGCATAGCCCCGTTTATTGGGTTCCTACAACATAG | AGAG c.1680
I M V G P G T G I A P F I G F L Q H R | E p.560
. . . . . . g.32824
AAACTCCAAGAACAACACCCAGATGGAAATTTTGGAGCAATGTGGTTGTTTTTTGGCTGC c.1740
K L Q E Q H P D G N F G A M W L F F G C p.580
. . | 14 . . . g.32992
AGGCATAAGGATAGGGATTATCTATTCAG | AAAAGAGCTCAGACATTTCCTTAAGCATGGG c.1800
R H K D R D Y L F R | K E L R H F L K H G p.600
. . . . . . g.33052
ATCTTAACTCATCTAAAGGTTTCCTTCTCAAGAGATGCTCCTGTTGGGGAGGAGGAAGCC c.1860
I L T H L K V S F S R D A P V G E E E A p.620
. . . . . . g.33112
CCAGCAAAGTATGTGCAAGACAACATCCAGCTTCATGGCCAGCAGGTGGCGAGAATCCTC c.1920
P A K Y V Q D N I Q L H G Q Q V A R I L p.640
. . . | 15 . . . g.35838
CTCCAGGAGAACGGCCATATTTATGTGTGTGG | AGATGCAAAGAATATGGCCAAGGATGTA c.1980
L Q E N G H I Y V C G | D A K N M A K D V p.660
. . . . . . g.35898
CATGATGCCCTTGTGCAAATAATAAGCAAAGAGGTTGGAGTTGAAAAACTAGAAGCAATG c.2040
H D A L V Q I I S K E V G V E K L E A M p.680
. . . . . g.35955
AAAACCCTGGCCACTTTAAAAGAAGAAAAACGCTACCTTCAGGATATTTGGTCATAA c.2097
K T L A T L K E E K R Y L Q D I W S X p.698
. . . . . . g.36015
aaccagaaattaaagaaagaggattaagcttttttgactgaaagtactaaaagtcagctt c.*60
. . . . . . g.36075
tactagtgccaaacctttaaattttcaaaagaaaattttctttcaacatttcttgaagga c.*120
. . . . . . g.36135
catggagtggagattggatcatttaacaatataacaaaacttcctgatttgattttacgt c.*180
. . . . . . g.36195
atcttctatctacgcccttcctgtgcctgtgactctccccaaattgccctgttgccttga c.*240
. . . . . . g.36255
gctcttctgagctaaggcagccttcagtccctatcagcgcctcctttacttcccagagaa c.*300
. . . . . . g.36315
cttcacagagactctgtccttccatgcaaaggcttcctgaaatagggagactgactgagt c.*360
. . . . . . g.36375
agctcattcttgtgacttacagtgccaacatttaaaaaagtatgaaaatgatttattttt c.*420
. . . . . . g.36435
atatgatgtatacccataaagaatgctcatattaatgtacttaaattacacatgtagagc c.*480
. . . . . . g.36495
atatctgttatatgtttatgtaactatcaaatggttatttgttactaaagctatatttct c.*540
. . . . . . g.36555
gataaaaaatattttaggataattgcctacagagggatttatttttatgatgctggaaat c.*600
. . . . . . g.36615
atgaaatgtattttaaaatttcactctggcatatgatttatctatcaccattactttttt c.*660
. . . . . . g.36675
ttaagtcacaatttcagaattttgggacatttgcattcaatttacaggtaccagtacgta c.*720
. . . . . . g.36735
catattttaatagaaagatacaacctttttattttcactccttttatttctgctgcttgg c.*780
. . . . . . g.36795
cacatttttgagttttcccacattatttgtctccatgataccactcaagcagtgtgctgg c.*840
. . . . . . g.36855
acctaaaatactgactttagttagtatccttggatttttagattcccagtgtctaattcc c.*900
. . . . . . g.36915
ctgttataatttgcacaaacaaaacaaaatgttatgataatctttctccactgttctaat c.*960
. . . . . . g.36975
atatattgtatttttatttgatagcttgggatttaaaacatctctgttgaaggcttttga c.*1020
. . . . g.37021
tccttttgagaaataaagatctgaaagaaatggcataatcttaaaa c.*1066
(downstream sequence)
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