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  Domain Name: V-set
Immunoglobulin V-set domain. This domain is found in antibodies as well as neural protein P0 and CTL4 amongst others.

Total Mutations Found: 462
Total Disease Mutations Found: 159
This domain occurred 260 times on human genes (687 proteins).



  ACHONDROPLASIA
  AGAMMAGLOBULINEMIA 6
  AND CATARACTS
  ANTLEY-BIXLER SYNDROME WITHOUT GENI
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STE
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS,
  BLOOD GROUP--LUTHERAN NULL
  CARDIOMYOPATHY, DILATED, 1KK
  CD8 DEFICIENCY, FAMILIAL
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, INCLUDED
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J
  COLORECTAL CANCER, SOMATIC
  CONGENITAL SHORT BOWEL SYNDROME
  CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED;;
  CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
  CROUZON SYNDROME
  CROUZON SYNDROME, INCLUDED
  DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
  ESOPHAGEAL CARCINOMA, SOMATIC
  GASTRIC CANCER, SOMATIC, INCLUDED
  GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
  HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,
  HYPOCHONDROPLASIA
  HYPOCHONDROPLASIA, INCLUDED
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
  INCLUDED
  JACKSON-WEISS SYNDROME
  JACKSON-WEISS SYNDROME, INCLUDED
  JACKSON-WEISS SYNDROME, INCLUDED;;
  MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
  MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,
  NARCOLEPSY 7
  NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
  OSTEOGLOPHONIC DYSPLASIA
  OVARIAN CANCER, SOMATIC
  PFEIFFER SYNDROME
  PFEIFFER SYNDROME, INCLUDED
  PFEIFFER SYNDROME, INCLUDED;;
  PFEIFFER SYNDROME, TYPE III
  POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
  RADIN BLOOD GROUP ANTIGEN
  ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
  ROUSSY-LEVY SYNDROME
  SCAPHOCEPHALY AND AXENFELD-RIEGER AN
  SCIANNA BLOOD GROUP SYSTEM, SC:-1,2
  SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE (SEMD-ACAN)
  TRIGONOCEPHALY 1
  VARIANT OF UNKNOWN SIGNIFICANCE
  WITH MENTAL RETARDATION
  WITH OR WITHOUT MENTAL RETARDATION


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for V-set








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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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