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capn6 gene expression patterns  (Human Protein Atlas)

 
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    Structured Review

    Human Protein Atlas capn6 gene expression patterns
    NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
    Capn6 Gene Expression Patterns, supplied by Human Protein Atlas, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/capn6 gene expression patterns/product/Human Protein Atlas
    Average 86 stars, based on 1 article reviews
    capn6 gene expression patterns - by Bioz Stars, 2026-05
    86/100 stars

    Images

    1) Product Images from "Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders"

    Article Title: Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

    Journal: International Journal of Molecular Sciences

    doi: 10.3390/ijms27031140

    NGS analysis identified the variant c.1088_1089del within the CAPN6 gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
    Figure Legend Snippet: NGS analysis identified the variant c.1088_1089del within the CAPN6 gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.

    Techniques Used: Variant Assay, Sequencing

    Pedigree analysis of the examined family with an X-linked genetic disorder associated with the mutation c.1088_1089del (p.Asp363GlyfsTer2) in the CAPN6 ( NM_014289.4 ) gene. Both the mother and the daughter exhibited mild intellectual disability. Furthermore, both the male sons exhibited severe neurodevelopmental and mild motor coordination disorders. Red arrows indicate the specific position of the variant. Blue and red asterisks indicate wild type and mutated sequence, respectively.
    Figure Legend Snippet: Pedigree analysis of the examined family with an X-linked genetic disorder associated with the mutation c.1088_1089del (p.Asp363GlyfsTer2) in the CAPN6 ( NM_014289.4 ) gene. Both the mother and the daughter exhibited mild intellectual disability. Furthermore, both the male sons exhibited severe neurodevelopmental and mild motor coordination disorders. Red arrows indicate the specific position of the variant. Blue and red asterisks indicate wild type and mutated sequence, respectively.

    Techniques Used: Mutagenesis, Variant Assay, Sequencing

    Domain organization and structural prediction of wild-type CAPN6. ( A ) Schematic representation of the functional domains of CAPN6, annotated according to the ProRule and InterPRO databases. A black arrow marks the mutation site at position 363 in the amino acid sequence. ( B ) Structural model generated using AlphaFold3, with domains colored according to panel. ( A ) The mutation site (Asp363) is highlighted in turquoise and indicated by a black square. ( C ) Close-up view of the wild-type residue (turquoise) and its hydrogen-bonding interactions with Asp365 and Asn369. Structural visualization and modeling were performed using UCSF ChimeraX.
    Figure Legend Snippet: Domain organization and structural prediction of wild-type CAPN6. ( A ) Schematic representation of the functional domains of CAPN6, annotated according to the ProRule and InterPRO databases. A black arrow marks the mutation site at position 363 in the amino acid sequence. ( B ) Structural model generated using AlphaFold3, with domains colored according to panel. ( A ) The mutation site (Asp363) is highlighted in turquoise and indicated by a black square. ( C ) Close-up view of the wild-type residue (turquoise) and its hydrogen-bonding interactions with Asp365 and Asn369. Structural visualization and modeling were performed using UCSF ChimeraX.

    Techniques Used: Structural Proteomics, Functional Assay, Mutagenesis, Sequencing, Generated, Residue



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    capn6 gene expression patterns  (Human Protein Atlas)
    86
    Human Protein Atlas capn6 gene expression patterns
    NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
    Capn6 Gene Expression Patterns, supplied by Human Protein Atlas, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/capn6 gene expression patterns/product/Human Protein Atlas
    Average 86 stars, based on 1 article reviews
    capn6 gene expression patterns - by Bioz Stars, 2026-05
    86/100 stars
    		  Buy from Supplier

    Image Search Results


    NGS analysis identified the variant c.1088_1089del within the CAPN6 gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.

    Journal: International Journal of Molecular Sciences

    Article Title: Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

    doi: 10.3390/ijms27031140

    Figure Lengend Snippet: NGS analysis identified the variant c.1088_1089del within the CAPN6 gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.

    Article Snippet: CAPN6 gene expression patterns of placenta tissues were obtained from the Human Protein Atlas (HPA) database ( https://www.proteinatlas.org/ ) (accessed on 26 May 2025).

    Techniques: Variant Assay, Sequencing

    Pedigree analysis of the examined family with an X-linked genetic disorder associated with the mutation c.1088_1089del (p.Asp363GlyfsTer2) in the CAPN6 ( NM_014289.4 ) gene. Both the mother and the daughter exhibited mild intellectual disability. Furthermore, both the male sons exhibited severe neurodevelopmental and mild motor coordination disorders. Red arrows indicate the specific position of the variant. Blue and red asterisks indicate wild type and mutated sequence, respectively.

    Journal: International Journal of Molecular Sciences

    Article Title: Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

    doi: 10.3390/ijms27031140

    Figure Lengend Snippet: Pedigree analysis of the examined family with an X-linked genetic disorder associated with the mutation c.1088_1089del (p.Asp363GlyfsTer2) in the CAPN6 ( NM_014289.4 ) gene. Both the mother and the daughter exhibited mild intellectual disability. Furthermore, both the male sons exhibited severe neurodevelopmental and mild motor coordination disorders. Red arrows indicate the specific position of the variant. Blue and red asterisks indicate wild type and mutated sequence, respectively.

    Article Snippet: CAPN6 gene expression patterns of placenta tissues were obtained from the Human Protein Atlas (HPA) database ( https://www.proteinatlas.org/ ) (accessed on 26 May 2025).

    Techniques: Mutagenesis, Variant Assay, Sequencing

    Domain organization and structural prediction of wild-type CAPN6. ( A ) Schematic representation of the functional domains of CAPN6, annotated according to the ProRule and InterPRO databases. A black arrow marks the mutation site at position 363 in the amino acid sequence. ( B ) Structural model generated using AlphaFold3, with domains colored according to panel. ( A ) The mutation site (Asp363) is highlighted in turquoise and indicated by a black square. ( C ) Close-up view of the wild-type residue (turquoise) and its hydrogen-bonding interactions with Asp365 and Asn369. Structural visualization and modeling were performed using UCSF ChimeraX.

    Journal: International Journal of Molecular Sciences

    Article Title: Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

    doi: 10.3390/ijms27031140

    Figure Lengend Snippet: Domain organization and structural prediction of wild-type CAPN6. ( A ) Schematic representation of the functional domains of CAPN6, annotated according to the ProRule and InterPRO databases. A black arrow marks the mutation site at position 363 in the amino acid sequence. ( B ) Structural model generated using AlphaFold3, with domains colored according to panel. ( A ) The mutation site (Asp363) is highlighted in turquoise and indicated by a black square. ( C ) Close-up view of the wild-type residue (turquoise) and its hydrogen-bonding interactions with Asp365 and Asn369. Structural visualization and modeling were performed using UCSF ChimeraX.

    Article Snippet: CAPN6 gene expression patterns of placenta tissues were obtained from the Human Protein Atlas (HPA) database ( https://www.proteinatlas.org/ ) (accessed on 26 May 2025).

    Techniques: Structural Proteomics, Functional Assay, Mutagenesis, Sequencing, Generated, Residue