(used for variant description)
(last modified December 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_198506.4 in the LRIT3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033249.1, covering LRIT3 transcript NM_198506.4.
(upstream sequence)
. g.5018
taacctctaaaaggagca c.-1
. . . . . . g.5078
ATGCATCTCTTTGCATGTCTGTGCATTGTCCTTAGCTTTTTGGAAGGAGTGGGCTGTTTG c.60
M H L F A C L C I V L S F L E G V G C L p.20
. . . . . | 02 . g.8324
TGTCCTTCACAGTGCACCTGTGATTATCACGGCAGAAATGACGGCTCAGGATCAAG | GTTG c.120
C P S Q C T C D Y H G R N D G S G S R | L p.40
. . . . . . g.8384
GTGCTATGTAATGACATGGATATGAACGAGCTGCCTACGAACCTCCCCGTGGACACTGTG c.180
V L C N D M D M N E L P T N L P V D T V p.60
. . . . . . g.8444
AAGCTTCGCATAGAGAAGACTGTCATCCGCAGAATCTCTGCGGAGGCCTTCTATTACCTG c.240
K L R I E K T V I R R I S A E A F Y Y L p.80
. . . . . . g.8504
GTGGAGCTCCAGTATCTCTGGGTGACTTACAATTCCGTGGCCAGCATTGACCCCAGCAGC c.300
V E L Q Y L W V T Y N S V A S I D P S S p.100
. . . . . . g.8564
TTTTACAACCTGAAGCAACTGCATGAGTTGCGCTTGGATGGGAATTCTCTGGCTGCTTTC c.360
F Y N L K Q L H E L R L D G N S L A A F p.120
. . . . . . g.8624
CCTTGGGCATCTCTGCTGGACATGCCCCTTCTGAGGACCCTGGACTTGCACAATAACAAA c.420
P W A S L L D M P L L R T L D L H N N K p.140
. . . . . . g.8684
ATAACCAGTGTGCCAAATGAGGCGCTCAGGTATCTGAAGAACCTTGCCTACTTGGATTTA c.480
I T S V P N E A L R Y L K N L A Y L D L p.160
. . . . . . g.8744
TCAAGCAACAGACTCACCACATTGCCACCAGATTTCCTGGAGAGCTGGACTCATTTAGTT c.540
S S N R L T T L P P D F L E S W T H L V p.180
. . . . | 03 . g.24468
TCAACACCTTCTGGAGTCCTGGACCTTTCCCCAAGCAGGATTATTCTTG | GTCTACAGGAC c.600
S T P S G V L D L S P S R I I L G | L Q D p.200
. . . . . . g.24528
AATCCTTGGTTCTGTGACTGTCATATTTCCAAAATGATTGAGTTGTCAAAGGTCGTTGAC c.660
N P W F C D C H I S K M I E L S K V V D p.220
. . . . . . g.24588
CCTGCTATAGTGCTTCTGGATCCACTGATGACTTGCAGTGAACCTGAGCGCCTCACAGGA c.720
P A I V L L D P L M T C S E P E R L T G p.240
. . . . . . g.24648
ATTTTGTTTCAGCGGGCTGAATTGGAGCATTGTCTGAAACCATCAGTGATGACCTCAGCC c.780
I L F Q R A E L E H C L K P S V M T S A p.260
. . . . . . g.24708
ACCAAAATCATGTCTGCTCTGGGCAGTAATGTTCTACTGCGGTGTGATGCCACTGGCTTC c.840
T K I M S A L G S N V L L R C D A T G F p.280
. . . . . | 04 . g.26466
CCCACCCCACAGATCACATGGACCAGATCTGACAGCTCGCCAGTTAATTATACAG | TAATA c.900
P T P Q I T W T R S D S S P V N Y T V | I p.300
. . . . . . g.26526
CAAGAATCTCCAGAGGAAGGAGTCAGATGGTCCATAATGAGCTTGACAGGCATTTCTTCC c.960
Q E S P E E G V R W S I M S L T G I S S p.320
. . . . . . g.26586
AAAGACGCTGGGGATTACAAATGTAAGGCCAAAAATCTGGCTGGGATGTCAGAAGCTGTG c.1020
K D A G D Y K C K A K N L A G M S E A V p.340
. . . . . . g.26646
GTTACTGTGACAGTGCTTGGCATTACCACAACTCCAATACCACCAGACACTTCTGAAAGA c.1080
V T V T V L G I T T T P I P P D T S E R p.360
. . . . . . g.26706
ACTGGAGATCATCCTGAGTGGGATGTCCAGCCGGGATCTGGAAGATCTACATCTGTATCT c.1140
T G D H P E W D V Q P G S G R S T S V S p.380
. . . . . . g.26766
AGCGCATCATCATATCTTTGGTCCTCTTCCTTCTCCCCCACATCTTCTTTTTCTGCTTCT c.1200
S A S S Y L W S S S F S P T S S F S A S p.400
. . . . . . g.26826
ACTTTGTCTCCTCCCTCTACTGCTTCCTTCTCTTTATCTCCTTTCTCCTCCTCCACTGTT c.1260
T L S P P S T A S F S L S P F S S S T V p.420
. . . . . . g.26886
TCTTCAACCACAACTCTGAGCACAAGCATCTCAGCAAGTACCACCATGGCCAACAAGCGA c.1320
S S T T T L S T S I S A S T T M A N K R p.440
. . . . . . g.26946
TCATTCCAGCTCCACCAAGGTGGGAAAAGAAATTTAAAGGTGGCAAAGAATGGAAGTAAG c.1380
S F Q L H Q G G K R N L K V A K N G S K p.460
. . . . . . g.27006
CTTCCTCCAGCCAGCACAAGTAAGAAAGAAGAGCTGGCATTGTTGGATCAAACAATGCTT c.1440
L P P A S T S K K E E L A L L D Q T M L p.480
. . . . . . g.27066
ACGGAGACAAATGCCGCAATAGAAAACCTCAGGGTGGTCAGTGAGACTAAAGAGAGTGTG c.1500
T E T N A A I E N L R V V S E T K E S V p.500
. . . . . . g.27126
ACATTGACGTGGAATATGATCAACACCACACATAACTCTGCAGTGACTGTGTTGTATTCC c.1560
T L T W N M I N T T H N S A V T V L Y S p.520
. . . . . . g.27186
AAGTATGGTGGGAAGGACCTGCTGCTGTTGAATGCAGACTCCAGCAAGAACCAAGTAACC c.1620
K Y G G K D L L L L N A D S S K N Q V T p.540
. . . . . . g.27246
ATAGATGGCTTGGAACCCGGTGGGCAATACATGGCCTGTGTCTGTCCAAAAGGAGTGCCT c.1680
I D G L E P G G Q Y M A C V C P K G V P p.560
. . . . . . g.27306
CCCCAGAAAGACCAATGCATCACCTTTTCTACTGAAAGAGTTGAAGGAGATGATTCTCAA c.1740
P Q K D Q C I T F S T E R V E G D D S Q p.580
. . . . . . g.27366
TGGTCTCTCCTTCTCGTGGTGACCAGTACTGCCTGTGTTGTTATCTTACCATTGATTTGT c.1800
W S L L L V V T S T A C V V I L P L I C p.600
. . . . . . g.27426
TTCTTGTTGTACAAAGTTTGCAAACTGCAATGTAAATCAGAACCTTTTTGGGAAGATGAT c.1860
F L L Y K V C K L Q C K S E P F W E D D p.620
. . . . . . g.27486
TTGGCAAAGGAGACTTATATCCAATTTGAGACCCTGTTTCCCAGGTCTCAAAGTGTAGGT c.1920
L A K E T Y I Q F E T L F P R S Q S V G p.640
. . . . . . g.27546
GAGCTCTGGACACGAAGCCACAGGGATGACTCAGAGAAATTGCTGCTTTGTTCTAGGTCA c.1980
E L W T R S H R D D S E K L L L C S R S p.660
. . . . . . g.27606
AGTGTGGAATCTCAGGTGACTTTTAAAAGTGAAGGTTCCAGACCAGAGTATTATTGCTAA c.2040
S V E S Q V T F K S E G S R P E Y Y C X p.679
. . . . . . g.27666
ggttctgcagctcaggtgcatgtgagctacaaaactagcatctaagggtataattgaccc c.*60
. . . . . . g.27726
taggtttggatgacttttggacagactttcacattgtacatgaaaatcacaaatggaatg c.*120
. . . . . . g.27786
cttttaagtatgtttaaaaaataccatgagacctctgaactgaaaagacaaataatgttg c.*180
. . . . . . g.27846
attttttttcttgtgtggaaaaggtctacagaaataatttttagagtggtgcttaataaa c.*240
. . . . . . g.27906
ttattaatactttttagggtaatgttttagttcttaaaaataagttcatgtgaaagtagc c.*300
. . . . . . g.27966
aagtgaactctgtatttaaaaatatagttttttgagtcatgaggaaacattagcaaaacc c.*360
. . . . . . g.28026
agctaagccttgatgtttattcatgttcgaagtgcattatagcatttgctgtggatgttt c.*420
. . . . . . g.28086
tctgacattgcctaatggagagcgtgggatcataaaggattttgtgttcactaaggttaa c.*480
. . . . . . g.28146
atctaactcacgggagagagagggctctgtctcttggtaccattatgcattgtgatacta c.*540
. . . . . . g.28206
tagagttgtgttcatatttcttgtaagaaaaatttttgcttttctttagaaatataggta c.*600
. . . . . . g.28266
ttagcaaaagtaagtatacaaagaggattatgacaaatagaccatttctttaaaaatggt c.*660
. . . . . . g.28326
aactgttgcatttaaacacatcgactgacagattatatggatatttaaaaataactttaa c.*720
. . . . . . g.28386
atcaatcttttaatattttgctgtttgctcttatgttctcccttctttcttccttccttg c.*780
. . . . . . g.28446
tcttccctccctttccttccttcattctttctttcttctgctctgtcagaagatatacaa c.*840
. . . . . . g.28506
gtagccaaagcatcacgagccaagctgtttgtcttttgccatattgtcttttgattctct c.*900
. . . . . . g.28566
tgataaagagaaagcttttgaaattacttactgccctttgaaagtctgttttacaacccc c.*960
. . . . . . g.28626
aaaggatattttaggactttaaaagggaagcttcagtggattcatttggttagattcttt c.*1020
. . . . . . g.28686
tcctaggttaaaaacatcggggaacttaaatacataggaaaggagttcacaaataaaatt c.*1080
. . . . . . g.28746
tagtttttttagaaagagaatattttaataactgtagtatactacaagaaacatctcatg c.*1140
. . . . . . g.28806
gctttaagattaacgatagcgataaggcccactcaagcatctcacagtggtgatattaca c.*1200
. . . . . . g.28866
tgtcacttagcaggatgcaacctggcctagggatttccagaagacaaggccacctcagca c.*1260
. . . . . . g.28926
cagatgcaactttcataaattttagaacaaagcctaaccttactagattaaacttgctct c.*1320
. . . . . . g.28986
atgaaagaaacacttggtaattgacccagactgaatacatgtataagaaatgggaaagat c.*1380
. . . . . . g.29046
ctcccaaactctgagaacggtcctcaaatagaagctctcctagtcagttggtcatctgac c.*1440
. . . . . . g.29106
ctctgactatatccggcctatgacaccagccagctcctgctttctgtcttgtaagagcac c.*1500
. . g.29132
tgctggaataaactacttgagcatta c.*1526
(downstream sequence)
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