Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC22366931;6932;6933 chr2:178775005;178775004;178775003chr2:179639732;179639731;179639730
N2AB22366931;6932;6933 chr2:178775005;178775004;178775003chr2:179639732;179639731;179639730
N2A22366931;6932;6933 chr2:178775005;178775004;178775003chr2:179639732;179639731;179639730
N2B21906793;6794;6795 chr2:178775005;178775004;178775003chr2:179639732;179639731;179639730
Novex-121906793;6794;6795 chr2:178775005;178775004;178775003chr2:179639732;179639731;179639730
Novex-221906793;6794;6795 chr2:178775005;178775004;178775003chr2:179639732;179639731;179639730
Novex-322366931;6932;6933 chr2:178775005;178775004;178775003chr2:179639732;179639731;179639730

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-11
  • Domain position: 63
  • Structural Position: 144
  • Q(SASA): 0.086
  • 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
I/F rs1328042181 -1.476 0.942 N 0.677 0.475 0.48763082235 gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
I/F rs1328042181 -1.476 0.942 N 0.677 0.475 0.48763082235 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
I/F rs1328042181 -1.476 0.942 N 0.677 0.475 0.48763082235 gnomAD-4.0.0 6.57237E-06 None None None None N None 0 0 None 0 0 None 0 0 1.4702E-05 0 0
I/S None None 0.942 N 0.679 0.604 0.887779923866 gnomAD-4.0.0 6.84131E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99339E-07 0 0
I/T rs1189735228 -2.704 0.822 N 0.651 0.513 0.720646288817 gnomAD-2.1.1 7.96E-06 None None None None N None 0 0 None 0 5.45E-05 None 3.27E-05 None 0 0 0
I/T rs1189735228 -2.704 0.822 N 0.651 0.513 0.720646288817 gnomAD-4.0.0 2.73652E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79868E-06 2.31868E-05 0
I/V rs1328042181 None 0.006 N 0.235 0.142 0.302459207581 gnomAD-4.0.0 3.18224E-06 None None None None N None 0 0 None 0 2.77593E-05 None 0 0 0 1.43279E-05 0

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
I/A 0.5101 ambiguous 0.4969 ambiguous -2.212 Highly Destabilizing 0.754 D 0.498 neutral None None None None N
I/C 0.8705 likely_pathogenic 0.8803 pathogenic -2.235 Highly Destabilizing 0.994 D 0.661 neutral None None None None N
I/D 0.9823 likely_pathogenic 0.9828 pathogenic -3.21 Highly Destabilizing 0.993 D 0.728 prob.delet. None None None None N
I/E 0.9543 likely_pathogenic 0.9535 pathogenic -3.129 Highly Destabilizing 0.978 D 0.733 prob.delet. None None None None N
I/F 0.6083 likely_pathogenic 0.5921 pathogenic -1.576 Destabilizing 0.942 D 0.677 prob.neutral N 0.518373855 None None N
I/G 0.927 likely_pathogenic 0.9259 pathogenic -2.596 Highly Destabilizing 0.978 D 0.726 prob.delet. None None None None N
I/H 0.9665 likely_pathogenic 0.9651 pathogenic -1.839 Destabilizing 0.998 D 0.699 prob.neutral None None None None N
I/K 0.9038 likely_pathogenic 0.9016 pathogenic -1.824 Destabilizing 0.978 D 0.731 prob.delet. None None None None N
I/L 0.2097 likely_benign 0.2043 benign -1.158 Destabilizing 0.294 N 0.403 neutral N 0.496226582 None None N
I/M 0.1774 likely_benign 0.1708 benign -1.244 Destabilizing 0.942 D 0.667 neutral D 0.620558098 None None N
I/N 0.8133 likely_pathogenic 0.8296 pathogenic -2.059 Highly Destabilizing 0.99 D 0.735 prob.delet. D 0.621464834 None None N
I/P 0.9066 likely_pathogenic 0.9082 pathogenic -1.487 Destabilizing 0.993 D 0.734 prob.delet. None None None None N
I/Q 0.9365 likely_pathogenic 0.934 pathogenic -2.201 Highly Destabilizing 0.993 D 0.734 prob.delet. None None None None N
I/R 0.865 likely_pathogenic 0.8628 pathogenic -1.26 Destabilizing 0.978 D 0.739 prob.delet. None None None None N
I/S 0.7155 likely_pathogenic 0.7198 pathogenic -2.589 Highly Destabilizing 0.942 D 0.679 prob.neutral N 0.520440278 None None N
I/T 0.313 likely_benign 0.3091 benign -2.388 Highly Destabilizing 0.822 D 0.651 neutral N 0.508037947 None None N
I/V 0.0817 likely_benign 0.0781 benign -1.487 Destabilizing 0.006 N 0.235 neutral N 0.417551081 None None N
I/W 0.9839 likely_pathogenic 0.9812 pathogenic -1.817 Destabilizing 0.998 D 0.656 neutral None None None None N
I/Y 0.9402 likely_pathogenic 0.9429 pathogenic -1.565 Destabilizing 0.978 D 0.687 prob.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.