Unser Haushund: Eine Spitzmaus im Wolfspelz? - Wolf-Ekkehard ...

236updated 10/31/2012) 34 Beispiele und 1 Beispiel als Variant of unknownsignificance mit ausführlichen Erklärungen auf. Im Folgenden gebe ich die Tabellewieder, die unter http://omim.org/allelicVariant/134934 aufgeführt wird:FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3 [Homo sapiens]Allelic Variants (Selected Examples):Number Phenotype Mutation dbSNP.0001ACHONDROPLASIANEVUS, EPIDERMAL, SOMATIC, INCLUDEDFGFR3, GLY380ARG, 1138G-A.0002 ACHONDROPLASIA FGFR3, GLY380ARG, 1138G-C -[rs28931614].0003 ACHONDROPLASIA FGFR3, GLY375CYS [rs75790268].0004.0005THANATOPHORIC DYSPLASIA, TYPE IIMULTIPLE MYELOMA, SOMATIC, INCLUDEDSPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDEDTHANATOPHORIC DYSPLASIA, TYPE IMULTIPLE MYELOMA, SOMATIC, INCLUDEDSKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS, INCLUDEDNEVUS, EPIDERMAL, SOMATIC, INCLUDEDKERATOSIS, SEBORRHEIC, SOMATIC, INCLUDEDFGFR3, LYS650GLU -FGFR3, ARG248CYS -.0006 THANATOPHORIC DYSPLASIA, TYPE I FGFR3, SER371CYS -.0007 THANATOPHORIC DYSPLASIA, TYPE I FGFR3, TER807GLY -.0008 THANATOPHORIC DYSPLASIA, TYPE I FGFR3, TER807ARG -.0009 THANATOPHORIC DYSPLASIA, TYPE I FGFR3, TER807CYS -.0010 HYPOCHONDROPLASIA FGFR3, ASN540LYS, 1620C-A [rs28933068].0011 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS FGFR3, ALA391GLU [rs28931615].0012 HYPOCHONDROPLASIA FGFR3, ASN540LYS, 1620C-G -.0013.0014.0015THANATOPHORIC DYSPLASIA, TYPE ICERVICAL CANCER, SOMATIC, INCLUDEDBLADDER CANCER, SOMATIC, INCLUDEDKERATOSIS, SEBORRHEIC, SOMATIC, INCLUDEDMUENKE SYNDROMESAETHRE-CHOTZEN SYNDROME, INCLUDEDBEARE-STEVENSON SYNDROME-LIKE ANOMALIES, INCLUDEDSADDAN DYSPLASIATHANATOPHORIC DYSPLASIA, TYPE I, INCLUDEDFGFR3, SER249CYS -FGFR3, PRO250ARGFGFR3, LYS650MET -.0016 THANATOPHORIC DYSPLASIA, TYPE I FGFR3, TYR373CYS -.0017 MULTIPLE MYELOMA, SOMATIC FGFR3, FGFR3/IGH FUSION -.0018 HYPOCHONDROPLASIA FGFR3, ASN540THR -[rs4647924].0019 HYPOCHONDROPLASIA FGFR3, ILE538VAL [rs80053154].0020 HYPOCHONDROPLASIA FGFR3, LYS650ASN, 1950G-T [rs28928868].0021 HYPOCHONDROPLASIA FGFR3, LYS650ASN, 1950G-C -.0022 HYPOCHONDROPLASIA FGFR3, LYS650GLN -.0023 HYPOCHONDROPLASIA FGFR3, ASN540SER [rs77722678].0024HYPOCHONDROPLASIABLADDER CANCER, SOMATIC, INCLUDEDFGFR3, LYS652GLN -.0025 COLORECTAL CANCER, SOMATIC FGFR3, GLU322LYS -.0026 COLORECTAL CANCER, SOMATIC FGFR3, 1-BP DEL, 849C -.0027 ACHONDROPLASIA FGFR3, GLY380ARG AND LEU377ARG -.0028 LADD SYNDROME FGFR3, ASP513ASN -.0029 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME FGFR3, ARG621HIS -.0030ACHONDROPLASIAHYPOCHONDROPLASIA, INCLUDEDFGFR3, SER279CYS -.0031 HYPOCHONDROPLASIA FGFR3, TYR278CYS -.0032 HYPOCHONDROPLASIA FGFR3, SER84LEU -.0033THANATOPHORIC DYSPLASIA, TYPE INEVUS, EPIDERMAL, SOMATIC, INCLUDEDFGFR3, GLY370CYS -.0034 THANATOPHORIC DYSPLASIA, TYPE I FGFR3, ASN540LYS AND GLN485ARG -.0035 VARIANT OF UNKNOWN SIGNIFICANCE FGFR3, ALA334THR -(Emphasis and [Homo sapiens] added.) Mit den Ausnahmen von einer Deletion und einerFusion handelt es sich um missense mutations. (Siehe weiter http://www.uniprot.org/uniprot/P22607.)Generelle Zwischenbemerkung: Es ist bedauerlich, dass wir für unsere Fragestellung zumBeweis erst von den Fehlfunktionen (maladies) aufgrund zufälliger Sequenzveränderungen(Mutationen) auf die lebenswichtige Funktion, Bedeutung und Notwendigkeit der exakten