(used for variant description)
(last modified June 20, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_002880.3 in the RAF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007467.1, covering RAF1 transcript NM_002880.3.
(upstream sequence)
. . . . . g.5033
agaatcggagagccggtggcgtcgcaggtcgggaggacgagcaccgagtcgaggg c.-361
. . . . . . g.5093
ctcgctcgtctgggccgcccgagagtcttaatcgcgggcgcttgggccgccatcttagat c.-301
. . . . . . g.5153
ggcgggagtaagaggaaaacgattgtgaggcgggaacggctttctgctgccttttttggg c.-241
. . . . . . g.5213
ccccgaaaagggtcagctggccgggctttggggcgcgtgccctgaggcgcggagcgcgtt c.-181
. . . . . . g.5273
tgctacgatgcgggggctgctcggggctccgtcccctgggctggggacgcgccgaatgtg c.-121
. . . . . . g.5333
accgcctcccgctccctcacccgccgcggggaggaggagcgggcgagaagctgccgccga c.-61
. . . . | 02 . . g.50458
acgacaggacgttggggcggcctggctccctcag | gtttaagaattgtttaagctgcatca c.-1
. . . . . . g.50518
ATGGAGCACATACAGGGAGCTTGGAAGACGATCAGCAATGGTTTTGGATTCAAAGATGCC c.60
M E H I Q G A W K T I S N G F G F K D A p.20
. . . . . . g.50578
GTGTTTGATGGCTCCAGCTGCATCTCTCCTACAATAGTTCAGCAGTTTGGCTATCAGCGC c.120
V F D G S S C I S P T I V Q Q F G Y Q R p.40
. . . . . . g.50638
CGGGCATCAGATGATGGCAAACTCACAGATCCTTCTAAGACAAGCAACACTATCCGTGTT c.180
R A S D D G K L T D P S K T S N T I R V p.60
. . | 03. . . . g.57150
TTCTTGCCGAACAAGCAAAGAACAGTG | GTCAATGTGCGAAATGGAATGAGCTTGCATGAC c.240
F L P N K Q R T V | V N V R N G M S L H D p.80
. . . . . . g.57210
TGCCTTATGAAAGCACTCAAGGTGAGGGGCCTGCAACCAGAGTGCTGTGCAGTGTTCAGA c.300
C L M K A L K V R G L Q P E C C A V F R p.100
. . | 04 . . . . g.59884
CTTCTCCACGAACACAAAGG | TAAAAAAGCACGCTTAGATTGGAATACTGATGCTGCGTCT c.360
L L H E H K G | K K A R L D W N T D A A S p.120
. . . . . . g.59944
TTGATTGGAGAAGAACTTCAAGTAGATTTCCTGGATCATGTTCCCCTCACAACACACAAC c.420
L I G E E L Q V D F L D H V P L T T H N p.140
| 05 . . . . . . g.60313
TTT | GCTCGGAAGACGTTCCTGAAGCTTGCCTTCTGTGACATCTGTCAGAAATTCCTGCTC c.480
F | A R K T F L K L A F C D I C Q K F L L p.160
. . . . . . g.60373
AATGGATTTCGATGTCAGACTTGTGGCTACAAATTTCATGAGCACTGTAGCACCAAAGTA c.540
N G F R C Q T C G Y K F H E H C S T K V p.180
. . . . | 06 . . g.62899
CCTACTATGTGTGTGGACTGGAGTAACATCAGACAACTCTT | ATTGTTTCCAAATTCCACT c.600
P T M C V D W S N I R Q L L | L F P N S T p.200
. . . . . . g.62959
ATTGGTGATAGTGGAGTCCCAGCACTACCTTCTTTGACTATGCGTCGTATGCGAGAGTCT c.660
I G D S G V P A L P S L T M R R M R E S p.220
. . | 07 . . . . g.64930
GTTTCCAGGATGCCTGTTAG | TTCTCAGCACAGATATTCTACACCTCACGCCTTCACCTTT c.720
V S R M P V S | S Q H R Y S T P H A F T F p.240
. . . . . . g.64990
AACACCTCCAGTCCCTCATCTGAAGGTTCCCTCTCCCAGAGGCAGAGGTCGACATCCACA c.780
N T S S P S S E G S L S Q R Q R S T S T p.260
. . . . . | 08 . g.68770
CCTAATGTCCACATGGTCAGCACCACCCTGCCTGTGGACAGCAGGATGATTGAG | GATGCA c.840
P N V H M V S T T L P V D S R M I E | D A p.280
. . | 09 . . . . g.68938
ATTCGAAGTCACAGCGAATCAG | CCTCACCTTCAGCCCTGTCCAGTAGCCCCAACAATCTG c.900
I R S H S E S A | S P S A L S S S P N N L p.300
. . . . . . g.68998
AGCCCAACAGGCTGGTCACAGCCGAAAACCCCCGTGCCAGCACAAAGAGAGCGGGCACCA c.960
S P T G W S Q P K T P V P A Q R E R A P p.320
. . . | 10 . . . g.69401
GTATCTGGGACCCAGGAGAAAAACAAAATT | AGGCCTCGTGGACAGAGAGATTCAAGCTAT c.1020
V S G T Q E K N K I | R P R G Q R D S S Y p.340
. . . . . . g.69461
TATTGGGAAATAGAAGCCAGTGAAGTGATGCTGTCCACTCGGATTGGGTCAGGCTCTTTT c.1080
Y W E I E A S E V M L S T R I G S G S F p.360
. . | 11 . . . g.77419
GGAACTGTTTATAAGGGTAAATGGCACG | GAGATGTTGCAGTAAAGATCCTAAAGGTTGTC c.1140
G T V Y K G K W H G | D V A V K I L K V V p.380
. . . . . | 12 . g.78212
GACCCAACCCCAGAGCAATTCCAGGCCTTCAGGAATGAGGTGGCTGTTCTGCG | CAAAACA c.1200
D P T P E Q F Q A F R N E V A V L R | K T p.400
. . . . . . g.78272
CGGCATGTGAACATTCTGCTTTTCATGGGGTACATGACAAAGGACAACCTGGCAATTGTG c.1260
R H V N I L L F M G Y M T K D N L A I V p.420
. . . . . . g.78332
ACCCAGTGGTGCGAGGGCAGCAGCCTCTACAAACACCTGCATGTCCAGGAGACCAAGTTT c.1320
T Q W C E G S S L Y K H L H V Q E T K F p.440
. . . . . | 13 . g.81552
CAGATGTTCCAGCTAATTGACATTGCCCGGCAGACGGCTCAGGGAATGGA | CTATTTGCAT c.1380
Q M F Q L I D I A R Q T A Q G M D | Y L H p.460
. . . | 14. . . g.83403
GCAAAGAACATCATCCATAGAGACATGAAATCCAACA | ATATATTTCTCCATGAAGGCTTA c.1440
A K N I I H R D M K S N N | I F L H E G L p.480
. . . . . . g.83463
ACAGTGAAAATTGGAGATTTTGGTTTGGCAACAGTAAAGTCACGCTGGAGTGGTTCTCAG c.1500
T V K I G D F G L A T V K S R W S G S Q p.500
. . . | 15 . . . g.83950
CAGGTTGAACAACCTACTGGCTCTGTCCTCTGGATG | GCCCCAGAGGTGATCCGAATGCAG c.1560
Q V E Q P T G S V L W M | A P E V I R M Q p.520
. . . . . . g.84010
GATAACAACCCATTCAGTTTCCAGTCGGATGTCTACTCCTATGGCATCGTATTGTATGAA c.1620
D N N P F S F Q S D V Y S Y G I V L Y E p.540
. . . . | 16 . g.84210
CTGATGACGGGGGAGCTTCCTTATTCTCACATCAACAACCGAGATCAG | ATCATCTTCATG c.1680
L M T G E L P Y S H I N N R D Q | I I F M p.560
. . . . . . g.84270
GTGGGCCGAGGATATGCCTCCCCAGATCTTAGTAAGCTATATAAGAACTGCCCCAAAGCA c.1740
V G R G Y A S P D L S K L Y K N C P K A p.580
. . . . . . g.84330
ATGAAGAGGCTGGTAGCTGACTGTGTGAAGAAAGTAAAGGAAGAGAGGCCTCTTTTTCCC c.1800
M K R L V A D C V K K V K E E R P L F P p.600
| 17 . . . . . . g.84579
CAG | ATCCTGTCTTCCATTGAGCTGCTCCAACACTCTCTACCGAAGATCAACCGGAGCGCT c.1860
Q | I L S S I E L L Q H S L P K I N R S A p.620
. . . . . . g.84639
TCCGAGCCATCCTTGCATCGGGCAGCCCACACTGAGGATATCAATGCTTGCACGCTGACC c.1920
S E P S L H R A A H T E D I N A C T L T p.640
. . g.84666
ACGTCCCCGAGGCTGCCTGTCTTCTAG c.1947
T S P R L P V F X p.648
. . . . . . g.84726
ttgactttgcacctgtcttcaggctgccaggggaggaggagaagccagcaggcaccactt c.*60
. . . . . . g.84786
ttctgctccctttctccagaggcagaacacatgttttcagagaagctgctgctaaggacc c.*120
. . . . . . g.84846
ttctagactgctcacagggccttaacttcatgttgccttcttttctatccctttgggccc c.*180
. . . . . . g.84906
tgggagaaggaagccatttgcagtgctggtgtgtcctgctccctccccacattccccatg c.*240
. . . . . . g.84966
ctcaaggcccagccttctgtagatgcgcaagtggatgttgatggtagtacaaaaagcagg c.*300
. . . . . . g.85026
ggcccagccccagctgttggctacatgagtatttagaggaagtaaggtagcaggcagtcc c.*360
. . . . . . g.85086
agccctgatgtggagacacatgggattttggaaatcagcttctggaggaatgcatgtcac c.*420
. . . . . . g.85146
aggcgggactttcttcagagagtggtgcagcgccagacattttgcacataaggcaccaaa c.*480
. . . . . . g.85206
cagcccaggactgccgagactctggccgcccgaaggagcctgctttggtactatggaact c.*540
. . . . . . g.85266
tttcttaggggacacgtcctcctttcacagcttctaaggtgtccagtgcattgggatggt c.*600
. . . . . . g.85326
tttccaggcaaggcactcggccaatccgcatctcagccctctcagggagcagtcttccat c.*660
. . . . . . g.85386
catgctgaattttgtcttccaggagctgcccctatggggcggggccgcagggccagcctt c.*720
. . . . . . g.85446
gtttctctaacaaacaaacaaacaaacagccttgtttctctagtcacatcatgtgtatac c.*780
. . . . . . g.85506
aaggaagccaggaatacaggttttcttgatgatttgggttttaattttgtttttattgca c.*840
. . . . . . g.85566
cctgacaaaatacagttatctgatggtccctcaattatgttattttaataaaataaatta c.*900
. g.85579
aatttaggtgtaa c.*913
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center