(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the IL7R gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering IL7R transcript NM_002185.2.(upstream sequence) . . g.1029 gtcttcctccctccctcccttcctcttac c.-61 . . . . . . g.1089 tctcattcatttcatacacactggctcacacatctactctctctctctatctctctcaga c.-1 . . . . . . g.1149 ATGACAATTCTAGGTACAACTTTTGGCATGGTTTTTTCTTTACTTCAAGTCGTTTCTGGA c.60 M T I L G T T F G M V F S L L Q V V S G p.20 . . | 02 . . . . g.5001 GAAAGTGGCTATGCTCAAAATG | GAGACTTGGAAGATGCAGAACTGGATGACTACTCATTC c.120 E S G Y A Q N G | D L E D A E L D D Y S F p.40 . . . . . . g.5061 TCATGCTATAGCCAGTTGGAAGTGAATGGATCGCAGCACTCACTGACCTGTGCTTTTGAG c.180 S C Y S Q L E V N G S Q H S L T C A F E p.60 . . . . | 03 . . g.11436 GACCCAGATGTCAACATCACCAATCTGGAATTTGAAATATG | TGGGGCCCTCGTGGAGGTA c.240 D P D V N I T N L E F E I C | G A L V E V p.80 . . . . . . g.11496 AAGTGCCTGAATTTCAGGAAACTACAAGAGATATATTTCATCGAGACAAAGAAATTCTTA c.300 K C L N F R K L Q E I Y F I E T K K F L p.100 . . . . . . g.11556 CTGATTGGAAAGAGCAATATATGTGTGAAGGTTGGAGAAAAGAGTCTAACCTGCAAAAAA c.360 L I G K S N I C V K V G E K S L T C K K p.120 . | 04 . . . . g.15208 ATAGACCTAACCACTATAG | TTAAACCTGAGGCTCCTTTTGACCTGAGTGTCGTCTATCGG c.420 I D L T T I V | K P E A P F D L S V V Y R p.140 . . . . . . g.15268 GAAGGAGCCAATGACTTTGTGGTGACATTTAATACATCACACTTGCAAAAGAAGTATGTA c.480 E G A N D F V V T F N T S H L Q K K Y V p.160 . . . . . | 05. g.17594 AAAGTTTTAATGCACGATGTAGCTTACCGCCAGGAAAAGGATGAAAACAAATGGACG | CAT c.540 K V L M H D V A Y R Q E K D E N K W T | H p.180 . . . . . . g.17654 GTGAATTTATCCAGCACAAAGCTGACACTCCTGCAGAGAAAGCTCCAACCGGCAGCAATG c.600 V N L S S T K L T L L Q R K L Q P A A M p.200 . . . . . . g.17714 TATGAGATTAAAGTTCGATCCATCCCTGATCACTATTTTAAAGGCTTCTGGAGTGAATGG c.660 Y E I K V R S I P D H Y F K G F W S E W p.220 . . . . | 06 . . g.18574 AGTCCAAGTTATTACTTCAGAACTCCAGAGATCAATAATAGCTCAG | GGGAGATGGATCCT c.720 S P S Y Y F R T P E I N N S S G | E M D P p.240 . . . . . . g.18634 ATCTTACTAACCATCAGCATTTTGAGTTTTTTCTCTGTCGCTCTGTTGGTCATCTTGGCC c.780 I L L T I S I L S F F S V A L L V I L A p.260 . . | 07 . . . . g.19663 TGTGTGTTATGGAAAAAAAG | GATTAAGCCTATCGTATGGCCCAGTCTCCCCGATCATAAG c.840 C V L W K K R | I K P I V W P S L P D H K p.280 . . . | 08 . . . g.20118 AAGACTCTGGAACATCTTTGTAAGAAACCAAGAAAA | AATTTAAATGTGAGTTTCAATCCT c.900 K T L E H L C K K P R K | N L N V S F N P p.300 . . . . . . g.20178 GAAAGTTTCCTGGACTGCCAGATTCATAGGGTGGATGACATTCAAGCTAGAGATGAAGTG c.960 E S F L D C Q I H R V D D I Q A R D E V p.320 . . . . . . g.20238 GAAGGTTTTCTGCAAGATACGTTTCCTCAGCAACTAGAAGAATCTGAGAAGCAGAGGCTT c.1020 E G F L Q D T F P Q Q L E E S E K Q R L p.340 . . . . . . g.20298 GGAGGGGATGTGCAGAGCCCCAACTGCCCATCTGAGGATGTAGTCATCACTCCAGAAAGC c.1080 G G D V Q S P N C P S E D V V I T P E S p.360 . . . . . . g.20358 TTTGGAAGAGATTCATCCCTCACATGCCTGGCTGGGAATGTCAGTGCATGTGACGCCCCT c.1140 F G R D S S L T C L A G N V S A C D A P p.380 . . . . . . g.20418 ATTCTCTCCTCTTCCAGGTCCCTAGACTGCAGGGAGAGTGGCAAGAATGGGCCTCATGTG c.1200 I L S S S R S L D C R E S G K N G P H V p.400 . . . . . . g.20478 TACCAGGACCTCCTGCTTAGCCTTGGGACTACAAACAGCACGCTGCCCCCTCCATTTTCT c.1260 Y Q D L L L S L G T T N S T L P P P F S p.420 . . . . . . g.20538 CTCCAATCTGGAATCCTGACATTGAACCCAGTTGCTCAGGGTCAGCCCATTCTTACTTCC c.1320 L Q S G I L T L N P V A Q G Q P I L T S p.440 . . . . . . g.20598 CTGGGATCAAATCAAGAAGAAGCATATGTCACCATGTCCAGCTTCTACCAAAACCAGTGA c.1380 L G S N Q E E A Y V T M S S F Y Q N Q X p.459 . . . . . . g.20658 agtgtaagaaacccagactgaacttaccgtgagcgacaaagatgatttaaaagggaagtc c.*60 . . . . . . g.20718 tagagttcctagtctccctcacagcacagagaagacaaaattagcaaaaccccactacac c.*120 . . . . . . g.20778 agtctgcaagattctgaaacattgctttgaccactcttcctgagttcagtggcactcaac c.*180 . . . . . . g.20838 atgagtcaagagcatcctgcttctaccatgtggatttggtcacaaggtttaaggtgaccc c.*240 . . . . . . g.20898 aatgattcagctatttaaaaaaaaaagaggaaagaatgaaagagtaaaggaaatgattga c.*300 . . . g.20934 ggagtgaggaaggcaggaagagagcatgagaggaaa c.*336 (downstream sequence)Legend:
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