(used for variant description)
(last modified December 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003361.3 in the UMOD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008151.1, covering UMOD transcript NM_003361.3.
(upstream sequence)
. . . . . g.4889
aacaacaacctcacagcttggacaaggcaaacattatgccaggaggaaaaaa c.-241
. . . . . . g.4949
tattccacccccaagaaaacaatatcaaaaaacagaactagagactaattggaggagaga c.-181
. . . . . . g.5009
ttgccagcctggggcaaatgtgtatatataagtatgaggcacatcatgaccagactaact c.-121
. . | 02. . . . g.6918
ctacctttctggcttcag | gacaccagacatcagagacagagagaaaaattcaaagggcca c.-61
. . . . . . g.6978
acccgtctttcctttgggcaggtgctatctagacctgaagtagcgggaagagcagaaagg c.-1
. . . . . . g.7038
ATGGGGCAGCCATCTCTGACTTGGATGCTGATGGTGGTGGTGGCCTCTTGGTTCATCACA c.60
M G Q P S L T W M L M V V V A S W F I T p.20
. . | 03 . . . g.8535
ACTGCAGCCACTGACACCTCAGAAGCAA | GATGGTGCTCTGAATGTCACAGCAATGCCACC c.120
T A A T D T S E A R | W C S E C H S N A T p.40
. . . . . . g.8595
TGCACGGAGGATGAGGCCGTTACGACGTGCACCTGTCAGGAGGGCTTCACCGGCGATGGC c.180
C T E D E A V T T C T C Q E G F T G D G p.60
. . . . . . g.8655
CTGACCTGCGTGGACCTGGATGAGTGCGCCATTCCTGGAGCTCACAACTGCTCCGCCAAC c.240
L T C V D L D E C A I P G A H N C S A N p.80
. . . . . . g.8715
AGCAGCTGCGTAAACACGCCAGGCTCCTTCTCCTGCGTCTGCCCCGAAGGCTTCCGCCTG c.300
S S C V N T P G S F S C V C P E G F R L p.100
. . . . . . g.8775
TCGCCCGGTCTCGGCTGCACAGACGTGGATGAGTGCGCTGAGCCTGGGCTTAGCCACTGC c.360
S P G L G C T D V D E C A E P G L S H C p.120
. . . . . . g.8835
CACGCCCTGGCCACATGTGTCAATGTGGTGGGCAGCTACTTGTGCGTATGCCCCGCGGGC c.420
H A L A T C V N V V G S Y L C V C P A G p.140
. . . . . . g.8895
TACCGGGGGGATGGATGGCACTGTGAGTGCTCCCCGGGCTCCTGCGGGCCGGGGTTGGAC c.480
Y R G D G W H C E C S P G S C G P G L D p.160
. . . . . . g.8955
TGCGTGCCCGAGGGCGACGCGCTCGTGTGCGCGGATCCGTGCCAGGCGCACCGCACCCTG c.540
C V P E G D A L V C A D P C Q A H R T L p.180
. . . . . . g.9015
GACGAGTACTGGCGCAGCACCGAGTACGGGGAGGGCTACGCCTGCGACACGGACCTGCGC c.600
D E Y W R S T E Y G E G Y A C D T D L R p.200
. . . . . . g.9075
GGCTGGTACCGCTTCGTGGGCCAGGGCGGTGCGCGCATGGCCGAGACCTGCGTGCCAGTC c.660
G W Y R F V G Q G G A R M A E T C V P V p.220
. . . . . . g.9135
CTGCGCTGCAACACGGCCGCCCCCATGTGGCTCAATGGCACGCATCCGTCCAGCGACGAG c.720
L R C N T A A P M W L N G T H P S S D E p.240
. . . . . . g.9195
GGCATCGTGAGCCGCAAGGCCTGCGCGCACTGGAGCGGCCACTGCTGCCTGTGGGATGCG c.780
G I V S R K A C A H W S G H C C L W D A p.260
. . . . . . g.9255
TCCGTCCAGGTGAAGGCCTGTGCCGGCGGCTACTACGTCTACAACCTGACAGCGCCCCCC c.840
S V Q V K A C A G G Y Y V Y N L T A P P p.280
. . | 04 . . . . g.9420
GAGTGTCACCTGGCGTACTGCACAG | ACCCCAGCTCCGTGGAGGGGACGTGTGAGGAGTGC c.900
E C H L A Y C T D | P S S V E G T C E E C p.300
. . . . . . g.9480
AGTATAGACGAGGACTGCAAATCGAATAATGGCAGATGGCACTGCCAGTGCAAACAGGAC c.960
S I D E D C K S N N G R W H C Q C K Q D p.320
. | 05 . . . . . g.11428
TTCAACATCACTG | ATATCTCCCTCCTGGAGCACAGGCTGGAATGTGGGGCCAATGACATG c.1020
F N I T D | I S L L E H R L E C G A N D M p.340
. . . . . . g.11488
AAGGTGTCGCTGGGCAAGTGCCAGCTGAAGAGTCTGGGCTTCGACAAGGTCTTCATGTAC c.1080
K V S L G K C Q L K S L G F D K V F M Y p.360
. . . . . . g.11548
CTGAGTGACAGCCGGTGCTCGGGCTTCAATGACAGAGACAACCGGGACTGGGTGTCTGTA c.1140
L S D S R C S G F N D R D N R D W V S V p.380
. . . . | 06 . . g.13561
GTGACCCCAGCCCGGGATGGCCCCTGTGGGACAGTGTTGACG | AGGAATGAAACCCATGCC c.1200
V T P A R D G P C G T V L T | R N E T H A p.400
. . . . . . g.13621
ACTTACAGCAACACCCTCTACCTGGCAGATGAGATCATCATCCGTGACCTCAACATCAAA c.1260
T Y S N T L Y L A D E I I I R D L N I K p.420
. . . . . . g.13681
ATCAACTTTGCATGCTCCTACCCCCTGGACATGAAAGTCAGCCTGAAGACCGCCCTACAG c.1320
I N F A C S Y P L D M K V S L K T A L Q p.440
. | 07 . . . . . g.16428
CCAATGGTCAG | TGCTCTAAACATCAGAGTGGGCGGGACCGGCATGTTCACCGTGCGGATG c.1380
P M V S | A L N I R V G G T G M F T V R M p.460
. . . . . . g.16488
GCGCTCTTCCAGACCCCTTCCTACACGCAGCCCTACCAAGGCTCCTCCGTGACACTGTCC c.1440
A L F Q T P S Y T Q P Y Q G S S V T L S p.480
. . . . . . g.16548
ACTGAGGCTTTTCTCTACGTGGGCACCATGTTGGATGGGGGCGACCTGTCCCGATTTGCA c.1500
T E A F L Y V G T M L D G G D L S R F A p.500
. . . . . . g.16608
CTGCTCATGACCAACTGCTATGCCACACCCAGTAGCAATGCCACGGACCCCCTGAAGTAC c.1560
L L M T N C Y A T P S S N A T D P L K Y p.520
. | 08. . . . . g.20305
TTCATCATCCAGGACAG | ATGCCCACACACTAGAGACTCAACTATCCAAGTGGTGGAGAAT c.1620
F I I Q D R | C P H T R D S T I Q V V E N p.540
. . . . . . g.20365
GGGGAGTCCTCCCAGGGCCGATTTTCCGTCCAGATGTTCCGGTTTGCTGGAAACTATGAC c.1680
G E S S Q G R F S V Q M F R F A G N Y D p.560
. . . . . . g.20425
CTAGTCTACCTGCACTGTGAAGTCTATCTCTGTGACACCATGAATGAAAAGTGCAAGCCT c.1740
L V Y L H C E V Y L C D T M N E K C K P p.580
| 09 . . . . . . g.21048
| ACCTGCTCTGGGACCAGATTCCGAAGTGGGAGTGTCATAGATCAATCCCGTGTCCTGAAC c.1800
| T C S G T R F R S G S V I D Q S R V L N p.600
. . | 10 . . . . g.22233
TTGGGTCCCATCACACGGAAAG | GTGTCCAGGCCACAGTCTCAAGGGCTTTTAGCAGCTTG c.1860
L G P I T R K G | V Q A T V S R A F S S L p.620
| 11 . . . . . . g.24399
G | GGCTCCTGAAAGTCTGGCTGCCTCTGCTTCTCTCGGCCACCTTGACCCTGACTTTTCAG c.1920
G | L L K V W L P L L L S A T L T L T F Q p.640
g.24402
TGA c.1923
X p.640
. . . . . . g.24462
ctgacagcggaaagccctgtgctccatggctgccatctcacctcctgctgggcagggggc c.*60
. . . . . . g.24522
atgatgcgggccagtgctccagccacagaaaagaaagttcatgctttgttcagcctgcct c.*120
. . . . . . g.24582
tcttttctcccttttaatcctggctgtcgagaaacagcctgtgtctttaaatgctgcttt c.*180
. . . . . . g.24642
ttctcaaaatgggacttgtgacggtgtacctgaggcccccatctccttaaagagtgtggc c.*240
. . g.24665
aaaataatgatttttaaatctca c.*263
(downstream sequence)
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