TULP1 I259T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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(TULP1 Ile259Thr)

Short summary


Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.999995; protein features (might be) affected.
GVGD: GV 89.28; GD 0.00; Class C0
Multi-alignment of O00294.3 tubby-related protein 1 [Homo sapiens] with: XP_001172351.1 [Pan troglodytes] XP_002816839.1 [Pongo abelii] XP_002746512.1 [Callithrix jacchus] XP_002914344.1 [Ailuropoda melanoleuca] NP_001193657.1 [Bos taurus] XP_002714681.1 [Oryctolagus cuniculus] CAX16011.1 [Mus musculus]

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr6:35477032: 36.6% (3936/10758) in EVS
  • G @ chr6:35585009: 32.8% (42/128) in GET-Evidence
  • Frequency shown in summary reports: 36.6% (3936/10758)




hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr6:35477032








hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr6:35477032



hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr6:35477032








hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr6:35477032




huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr6:35477032



huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr6:35477032


huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr6:35477032





huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr6:35477032



GS06985 - var-GS06985-1100-36-ASM
het G @ chr6:35585010


GS06994 - var-GS06994-1100-36-ASM
het G @ chr6:35585010


GS07357 - var-GS07357-1100-36-ASM
het G @ chr6:35585010


GS12004 - var-GS12004-1100-36-ASM
het G @ chr6:35585010


GS18501 - var-GS18501-1100-36-ASM
het G @ chr6:35585010


GS18505 - var-GS18505-1100-36-ASM
het G @ chr6:35585010


GS18537 - var-GS18537-1100-36-ASM
het G @ chr6:35585010


GS18555 - var-GS18555-1100-36-ASM
hom G @ chr6:35585010


GS18940 - var-GS18940-1100-36-ASM
het G @ chr6:35585010


GS18942 - var-GS18942-1100-36-ASM
het G @ chr6:35585010


GS18947 - var-GS18947-1100-36-ASM
hom G @ chr6:35585010


GS19026 - var-GS19026-1100-36-ASM
het G @ chr6:35585010


GS19129 - var-GS19129-1100-36-ASM
het G @ chr6:35585010


GS19648 - var-GS19648-1100-36-ASM
het G @ chr6:35585010


GS19649 - var-GS19649-1100-36-ASM
het G @ chr6:35585010


GS19700 - var-GS19700-1100-36-ASM
het G @ chr6:35585010


GS19701 - var-GS19701-1100-36-ASM
het G @ chr6:35585010


GS19735 - var-GS19735-1100-36-ASM
het G @ chr6:35585010


GS19834 - var-GS19834-1100-36-ASM
het G @ chr6:35585010


GS20509 - var-GS20509-1100-36-ASM
het G @ chr6:35585010


GS21767 - var-GS21767-1100-36-ASM
het G @ chr6:35585010


Other external references

  • rs2064317
  • GeneTests records for the TULP1 gene
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Recessive
    TULP1-Related Leber Congenital Amaurosis
    TULP1-Related Retinitis Pigmentosa
  • Score: 0 (benign)

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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