|
| MutDB Position: SWISS:VAR_009396 | |
|
|
SNP Info | Annotation Info | |
|
Gene accession number: | Q13627 |
Swiss-Prot Source: | VAR_009396 |
|
Swiss gene ID: | DYR1A_HUMAN | | |
|
Phenotype: | | | |
|
Wild type amino acid: | Q | | |
|
Mutant amino acid: | H | | |
|
Location: | 681 | | |
|
SIFT Score: (help?) | 0.00* | | | |
SIFT Prediction: | DELETERIOUS | | |
|
Sequence |
| This sequence was derived from Swiss-Prot entry: Q13627 | MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQV
MPDIVMLQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSSHKKERKVYNDGY
DDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELM
NKHDTEMKYYIVHLKRHFMFRNHLCLVFEMLSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPE
LSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCI
LVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGT
RKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFFKKTADEGTNTS
NSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSGRARSDPTHQHRHSGGHFTAAVQAMDCETHSPQVRQ
QFPAPLGWSGTEAPTQVTVETHPVQETTFHVAPQQNALHHHHGNSSHHHHHHHHHHHHHGQQALGNRTRP
RVYNSPTNSSSTQDSMEVGHSHHSMTSLSSSTTSSSTSSSSTGNQGNQAY [ Q -> H ] NRPVAANT
LDFGQNGAMDVNLTVYSNPRQETGIAGHPTYQFSANTGPAHYMTEGHLTMRQGADREESPMTGVCVQQSP
VASS |
|
| |
