Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC30769451;9452;9453 chr2:178768093;178768092;178768091chr2:179632820;179632819;179632818
N2AB30769451;9452;9453 chr2:178768093;178768092;178768091chr2:179632820;179632819;179632818
N2A30769451;9452;9453 chr2:178768093;178768092;178768091chr2:179632820;179632819;179632818
N2B30309313;9314;9315 chr2:178768093;178768092;178768091chr2:179632820;179632819;179632818
Novex-130309313;9314;9315 chr2:178768093;178768092;178768091chr2:179632820;179632819;179632818
Novex-230309313;9314;9315 chr2:178768093;178768092;178768091chr2:179632820;179632819;179632818
Novex-330769451;9452;9453 chr2:178768093;178768092;178768091chr2:179632820;179632819;179632818

Information

  • RefSeq wild type amino acid: M
  • RefSeq wild type transcript codon: ATG
  • RefSeq wild type template codon: TAC
  • Domain: Ig-21
  • Domain position: 19
  • Structural Position: 29
  • Q(SASA): 0.3961
  • Predicted PPI site: N

Reported SAVs

SNV RS
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
M/I rs144592053 -0.676 None N 0.197 0.086 0.132336055621 gnomAD-2.1.1 1.59E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.53E-05 0
M/I rs144592053 -0.676 None N 0.197 0.086 0.132336055621 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
M/I rs144592053 -0.676 None N 0.197 0.086 0.132336055621 gnomAD-4.0.0 5.57621E-06 None None None None N None 0 0 None 0 2.23005E-05 None 0 0 6.77955E-06 0 0
M/L rs766144077 -0.7 None N 0.2 0.115 0.139678290688 gnomAD-2.1.1 7.97E-06 None None None None N None 1.23031E-04 0 None 0 0 None 0 None 0 0 0
M/L rs766144077 -0.7 None N 0.2 0.115 0.139678290688 gnomAD-3.1.2 1.31E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 0 0 0
M/L rs766144077 -0.7 None N 0.2 0.115 0.139678290688 gnomAD-4.0.0 1.85871E-06 None None None None N None 4.0031E-05 0 None 0 0 None 0 0 0 0 0
M/V rs766144077 -1.033 None N 0.196 0.062 0.0611884634855 gnomAD-2.1.1 7.08E-06 None None None None N None 4E-05 0 None 0 0 None 0 None 0 7.76E-06 0
M/V rs766144077 -1.033 None N 0.196 0.062 0.0611884634855 gnomAD-3.1.2 2.63E-05 None None None None N None 4.82E-05 6.54E-05 0 0 0 None 0 0 1.47E-05 0 0
M/V rs766144077 -1.033 None N 0.196 0.062 0.0611884634855 gnomAD-4.0.0 6.81526E-06 None None None None N None 2.66873E-05 1.66667E-05 None 0 0 None 0 0 3.3898E-06 0 6.40143E-05

Saturation Mutagenesis

SAV
AlphaMissense (IC)
AlphaMissense Class (IC)
AlphaMissense (N2AB)
AlphaMissense Class (N2AB)
mCSM
mCSM class
PolyPhen-2
PolyPhen-2 Class
Rhapsody
Rhapsody Class
Condel
Condel Score
Site annotation
mCSM PPI
Predicted PPI site
M/A 0.3747 ambiguous 0.5389 ambiguous -1.949 Destabilizing 0.002 N 0.294 neutral None None None None N
M/C 0.7173 likely_pathogenic 0.8491 pathogenic -1.389 Destabilizing 0.245 N 0.467 neutral None None None None N
M/D 0.9495 likely_pathogenic 0.9715 pathogenic -0.712 Destabilizing 0.018 N 0.484 neutral None None None None N
M/E 0.7385 likely_pathogenic 0.802 pathogenic -0.617 Destabilizing 0.018 N 0.448 neutral None None None None N
M/F 0.4451 ambiguous 0.5539 ambiguous -0.674 Destabilizing 0.009 N 0.457 neutral None None None None N
M/G 0.7422 likely_pathogenic 0.8657 pathogenic -2.316 Highly Destabilizing 0.018 N 0.413 neutral None None None None N
M/H 0.7119 likely_pathogenic 0.8134 pathogenic -1.321 Destabilizing 0.497 N 0.515 neutral None None None None N
M/I 0.267 likely_benign 0.3971 ambiguous -0.96 Destabilizing None N 0.197 neutral N 0.321771962 None None N
M/K 0.5448 ambiguous 0.6421 pathogenic -0.836 Destabilizing 0.014 N 0.417 neutral N 0.340617602 None None N
M/L 0.1385 likely_benign 0.1975 benign -0.96 Destabilizing None N 0.2 neutral N 0.34620646 None None N
M/N 0.6194 likely_pathogenic 0.7582 pathogenic -0.827 Destabilizing 0.018 N 0.513 neutral None None None None N
M/P 0.9863 likely_pathogenic 0.9925 pathogenic -1.265 Destabilizing 0.085 N 0.553 neutral None None None None N
M/Q 0.4298 ambiguous 0.5378 ambiguous -0.794 Destabilizing 0.085 N 0.471 neutral None None None None N
M/R 0.5792 likely_pathogenic 0.6566 pathogenic -0.432 Destabilizing 0.065 N 0.524 neutral N 0.341589183 None None N
M/S 0.3707 ambiguous 0.5405 ambiguous -1.476 Destabilizing None N 0.253 neutral None None None None N
M/T 0.1621 likely_benign 0.2785 benign -1.264 Destabilizing None N 0.253 neutral N 0.288286345 None None N
M/V 0.0624 likely_benign 0.0692 benign -1.265 Destabilizing None N 0.196 neutral N 0.318635227 None None N
M/W 0.829 likely_pathogenic 0.884 pathogenic -0.666 Destabilizing 0.497 N 0.463 neutral None None None None N
M/Y 0.7126 likely_pathogenic 0.8166 pathogenic -0.72 Destabilizing 0.085 N 0.531 neutral None None None None N

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.