(used for variant description)
(last modified June 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_053274.2 in the GLMN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009796.1, covering GLMN transcript NM_053274.2.
(upstream sequence)
. . . . . g.5055
acgcgtagcgcggggcggggccagaagagcgggctaagacgccggaggaggtggc c.-61
. . . | 02 . . g.6010
ggcggctgggagaggcgagggttctggccg | attttagcatcgaaactaggagaaataaga c.-1
. . . | 03 . . g.6501
ATGGCTGTAGAGGAACTTCAGTCTATAATAAAGAGATGT | CAAATCCTAGAAGAGCAAGAC c.60
M A V E E L Q S I I K R C | Q I L E E Q D p.20
. . . . . . g.6561
TTTAAAGAAGAGGATTTTGGCCTATTTCAGTTAGCTGGGCAAAGATGCATAGAAGAAGGG c.120
F K E E D F G L F Q L A G Q R C I E E G p.40
. . . . | 04 . . g.12487
CACACAGACCAGCTATTAGAAATTATTCAAAATGAAAAGAATAAG | GTCATCATCAAGAAT c.180
H T D Q L L E I I Q N E K N K | V I I K N p.60
. . . . . . g.12547
ATGGGCTGGAATCTCGTTGGTCCTGTTGTTCGATGCCTTTTGTGTAAAGATAAAGAGGAT c.240
M G W N L V G P V V R C L L C K D K E D p.80
. . . . | 05 . . g.13718
AGTAAAAGAAAAGTTTATTTTTTGATCTTTGATTTATTGGTAAAG | TTATGCAATCCAAAG c.300
S K R K V Y F L I F D L L V K | L C N P K p.100
. . . . . . g.13778
GAATTATTGTTGGGTTTGCTTGAACTGATTGAAGAGCCCTCTGGAAAACAGATATCCCAA c.360
E L L L G L L E L I E E P S G K Q I S Q p.120
. . . | 06 . . . g.14884
AGTATTCTTCTTTTGCTTCAGCCATTACAAACAG | TGATTCAGAAACTTCATAACAAGGCA c.420
S I L L L L Q P L Q T V | I Q K L H N K A p.140
. . . . . . g.14944
TATTCAATTGGATTAGCATTGTCTACCCTTTGGAATCAGCTATCTCTTCTTCCTGTTCCA c.480
Y S I G L A L S T L W N Q L S L L P V P p.160
. . . . . . g.15004
TACTCAAAAGAACAAATACAAATGGATGACTATGGCCTTTGTCAGTGTTGCAAGGCCTTA c.540
Y S K E Q I Q M D D Y G L C Q C C K A L p.180
. . . . . . g.15064
ATAGAGTTCACTAAGCCTTTTGTGGAAGAAGTCATTGATAACAAAGAAAACTCACTGGAA c.600
I E F T K P F V E E V I D N K E N S L E p.200
. . . | 07 . . . g.17445
AATGAAAAGTTAAAGGATGAATTACTGAAATT | TTGTTTCAAAAGCTTGAAATGCCCTTTG c.660
N E K L K D E L L K F | C F K S L K C P L p.220
. . . . . . g.17505
CTGACAGCACAATTCTTTGAACAGTCTGAAGAAGGTGGAAATGATCCTTTCAGGTATTTT c.720
L T A Q F F E Q S E E G G N D P F R Y F p.240
. | 08 . . . . . g.32402
GCATCAGAAATAATA | GGTTTTTTATCAGCAATTGGACACCCTTTCCCCAAAATGATTTTT c.780
A S E I I | G F L S A I G H P F P K M I F p.260
. . . . . . g.32462
AATCATGGAAGGAAAAAGAGAACTTGGAATTACCTTGAATTTGAAGAAGAAGAAAATAAA c.840
N H G R K K R T W N Y L E F E E E E N K p.280
. . . . . . g.32522
CAGTTAGCAGACTCAATGGCTTCTCTGGCATATCTAGTATTTGTACAGGGCATCCATATT c.900
Q L A D S M A S L A Y L V F V Q G I H I p.300
. . | 09 . . . . g.34270
GATCAGCTTCCAATGGTCTTAAG | CCCATTGTACCTTTTGCAGTTTAATATGGGGCACATT c.960
D Q L P M V L S | P L Y L L Q F N M G H I p.320
. | 10. . . | 11 . g.36019
GAAGTCTTTTTGCAAAG | AACAGAAGAGTCTGTTATCTCCAAAGGATTG | GAGCTGCTGGAG c.1020
E V F L Q R | T E E S V I S K G L | E L L E p.340
. . . . . . g.36079
AATAGTTTATTGAGAATAGAAGACAATAGTCTACTTTACCAGTACTTAGAAATCAAGAGT c.1080
N S L L R I E D N S L L Y Q Y L E I K S p.360
. | 12 . . . . g.37310
TTTCTTACTGTACCTCAG | GGCTTAGTGAAAGTAATGACACTTTGCCCCATTGAGACACTG c.1140
F L T V P Q | G L V K V M T L C P I E T L p.380
| 13 . . . . . . g.37577
| AGGAAAAAGAGTTTAGCTATGCTTCAGCTGTATATTAACAAGTTGGATTCACAAGGCAAA c.1200
| R K K S L A M L Q L Y I N K L D S Q G K p.400
. | 14 . . . . . g.39417
TATACATTATTTAG | GTGCTTATTGAATACAAGTAATCACTCAGGTGTGGAGGCTTTTATT c.1260
Y T L F R | C L L N T S N H S G V E A F I p.420
. . . | 15 . . g.40298
ATTCAAAATATCAAAAATCAAATTGACATGTCATTAAAG | AGAACACGTAACAACAAATGG c.1320
I Q N I K N Q I D M S L K | R T R N N K W p.440
. . . . . . g.40358
TTTACAGGACCACAGTTGATTTCCCTTCTTGATTTGGTACTTTTTCTCCCAGAGGGTGCA c.1380
F T G P Q L I S L L D L V L F L P E G A p.460
. . | 16 . . . g.41114
GAAACAGATTTACTGCAAAACTCAGATAG | GATTATGGCTTCATTAAATTTATTGAGGTAT c.1440
E T D L L Q N S D R | I M A S L N L L R Y p.480
. . . | 17 . . . g.56047
TTGGTTATCAAAGATAATGAAAATGACAATCAA | ACTGGATTATGGACAGAACTTGGAAAT c.1500
L V I K D N E N D N Q | T G L W T E L G N p.500
. . . . . . g.56107
ATTGAGAATAATTTCTTAAAGCCACTTCATATAGGACTTAATATGTCAAAAGCACATTAT c.1560
I E N N F L K P L H I G L N M S K A H Y p.520
. . | 18 . . . . g.56900
GAAGCAGAAATTAAAAATAGCCAAG | AGGCCCAGAAATCTAAAGATCTTTGTTCTATAACT c.1620
E A E I K N S Q E | A Q K S K D L C S I T p.540
. . . . | 19 . g.57375
GTAAGTGGAGAAGAGATCCCTAATATGCCTCCTGAAATGCAGCTTAAG | GTCCTGCATTCA c.1680
V S G E E I P N M P P E M Q L K | V L H S p.560
. . . . . . g.57435
GCTCTTTTCACATTTGATTTGATTGAAAGTGTTCTAGCTCGAGTGGAAGAACTCATTGAA c.1740
A L F T F D L I E S V L A R V E E L I E p.580
. . . . g.57480
ATAAAAACAAAGTCTACCTCTGAAGAAAATATTGGGATAAAGTGA c.1785
I K T K S T S E E N I G I K X p.594
. . . . . . g.57540
aagttccatttcctaaataaaaactaataaaatatagtactttccattatgattcattta c.*60
. . . . . . g.57600
atacctttataaaaaatttttctgtaaaaatttactgcttgaaaaataaatgtagctttt c.*120
. g.57612
ctcatttatcaa c.*132
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center