Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"
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[[Lab Journal - Task 8 (PAH) #Sequence-based mutation analysis |Lab journal]] <br> |
[[Lab Journal - Task 8 (PAH) #Sequence-based mutation analysis |Lab journal]] <br> |
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=== Mutation dataset === |
=== Mutation dataset === |
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| − | For the generation of the mutation dataset the following five SNPs from the [http://www.hgmd.org/ HGMD] database were used (25th June 2013): |
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| + | {| |
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| − | <figtable id="mutds_hgmd"> |
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| + | |SNPs |
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| − | {| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center" |
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| + | |Ala259Val |
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| + | |Arg123Ile |
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| − | ! colspan="7" style="background:#228B22;" | Missense mutations (SNPs) from HGMD |
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| + | |Gln20Leu |
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| − | ! style="background:#32CD32;" | Accession Number |
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| − | ! style="background:#32CD32;" | Codon change |
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| − | ! style="background:#32CD32;" | Sequence position |
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| − | ! style="background:#32CD32;" | Amino acid change |
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| − | ! style="background:#32CD32;" | Codon number |
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| − | ! style="background:#32CD32;" | Disease |
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| − | ! style="background:#32CD32;" | Reference |
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| − | |- |
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| − | | CM000542 || C<span style="background:#00FF00">A</span>G⇒C<span style="background:#00FF00">T</span>G || 59 || Gln(Q)-Leu(L) || 20 || Hyperphenylalaninaemia || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=10679941&dopt=Abstract Hennermann (2000) Hum Mutat 15, 254] |
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| − | |- |
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| − | | CM045080 || <span style="background:#00FF00">G</span>GT⇒<span style="background:#00FF00">A</span>GT || 307 || Gly(G)-Ser(S) || 103 || Phenylketonuria || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=15503242&dopt=Abstract Lee (2004) J Hum Genet 49, 617] |
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| − | |- |
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| − | | CM910286 || G<span style="background:#00FF00">C</span>C⇒G<span style="background:#00FF00">T</span>C || 776 || Ala(A)-Val(V) || 259 || Phenylketonuria || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=2035532&dopt=Abstract Labrune (1991) Am J Hum Genet 48, 1115] |
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| − | |- |
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| − | | CM010981 || A<span style="background:#00FF00">A</span>G⇒A<span style="background:#00FF00">C</span>G || 1022 || Lys(K)-Thr(T) || 341 || Phenylketonuria || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=9012412&dopt=Abstract Tyfield (1997) Am J Hum Genet 60, 388] |
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| − | |- |
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| − | | CM090791 || C<span style="background:#00FF00">C</span>A⇒C<span style="background:#00FF00">A</span>A || 1247 || Pro(P)-Gln(Q) || 416 || Hyperphenylalaninaemia || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=18937047&dopt=Abstract Dobrowolski (2009) J Inherit Metab Dis 32, 10] |
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| − | |} |
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| − | </figtable> |
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| − | |||
| − | Furthermore, the following five mutations from [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] were added (25th June 2013): |
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| − | <figtable id="mutds_dbSNP"> |
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| − | {| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center" |
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| + | |Gly103Ser |
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| − | ! colspan="6" style="background:#228B22;" | Missense mutations (SNPs) from dbSNP |
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| + | |His64Asn |
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| − | ! style="background:#32CD32;" | Reference SNP |
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| − | ! style="background:#32CD32;" | Codon change |
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| − | ! style="background:#32CD32;" | Sequence position |
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| − | ! style="background:#32CD32;" | Amino acid change |
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| − | ! style="background:#32CD32;" | Codon number |
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| − | ! style="background:#32CD32;" | Disease |
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| + | |Ile421Thr |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199475569 rs199475569] || <span style="background:#00FF00">C</span>AC⇒<span style="background:#00FF00">A</span>AC || 190 || His(H)-Asn(N) || 64 || ? |
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| + | |Lys341Thr |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199475681 rs199475681] || A<span style="background:#00FF00">G</span>A⇒A<span style="background:#00FF00">T</span>A || 368 || Arg(R)-Ile(I) || 123 || ? |
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| + | |Phe392Ser |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62508752 rs62508752] || <span style="background:#00FF00">A</span>CA⇒<span style="background:#00FF00">C</span>CA || 796 || Thr(T)-Ala(A) || 266 || Phenylketonuria |
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| + | |Pro416Gln |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199475695 rs199475695] || T<span style="background:#00FF00">T</span>T⇒T<span style="background:#00FF00">C</span>T || 1175 || Phe(F)-Ser(S) || 392 || ? |
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| + | |Thr266Ala |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199475696 rs199475696] || A<span style="background:#00FF00">T</span>T⇒A<span style="background:#00FF00">C</span>T || 1262 || Ile(I)-Thr(T) || 421 || ? |
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|} |
|} |
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| − | </figtable> |
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===Investigate the mutations=== |
===Investigate the mutations=== |
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Revision as of 09:30, 27 June 2013
Contents
Summary
...
Sequence-based mutation analysis
Mutation dataset
| SNPs | Ala259Val |
| Arg123Ile | |
| Gln20Leu | |
| Gly103Ser | |
| His64Asn | |
| Ile421Thr | |
| Lys341Thr | |
| Phe392Ser | |
| Pro416Gln | |
| Thr266Ala |
Investigate the mutations
Ala-259-Val
Arg-123-Ile
Gln-20-Leu
Gly-103-Ser
His-64-Asn
Ile-421-Thr
Lys-341-Thr
Phe-392-Ser
Pro-416-Gln
Thr-266-Ala
References
<references/>
