Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26672 | 80239;80240;80241 | chr2:178566118;178566117;178566116 | chr2:179430845;179430844;179430843 |
| N2AB | 25031 | 75316;75317;75318 | chr2:178566118;178566117;178566116 | chr2:179430845;179430844;179430843 |
| N2A | 24104 | 72535;72536;72537 | chr2:178566118;178566117;178566116 | chr2:179430845;179430844;179430843 |
| N2B | 17607 | 53044;53045;53046 | chr2:178566118;178566117;178566116 | chr2:179430845;179430844;179430843 |
| Novex-1 | 17732 | 53419;53420;53421 | chr2:178566118;178566117;178566116 | chr2:179430845;179430844;179430843 |
| Novex-2 | 17799 | 53620;53621;53622 | chr2:178566118;178566117;178566116 | chr2:179430845;179430844;179430843 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.999 | D | 0.66 | 0.386 | 0.403752378121 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| K/M | rs765691452  |
0.322 | 1.0 | N | 0.623 | 0.516 | 0.486636631601 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| K/M | rs765691452 |
0.322 | 1.0 | N | 0.623 | 0.516 | 0.486636631601 | gnomAD-4.0.0 | 1.36853E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7991E-06 | 0 | 0 |
| K/N | rs762254728 |
0.495 | 1.0 | N | 0.709 | 0.358 | 0.286081765059 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| K/N | rs762254728 |
0.495 | 1.0 | N | 0.709 | 0.358 | 0.286081765059 | gnomAD-4.0.0 | 4.78987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29687E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5865 | likely_pathogenic | 0.5703 | pathogenic | 0.03 | Stabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| K/C | 0.7816 | likely_pathogenic | 0.7855 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/D | 0.9382 | likely_pathogenic | 0.9269 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| K/E | 0.6504 | likely_pathogenic | 0.6012 | pathogenic | 0.087 | Stabilizing | 0.999 | D | 0.66 | neutral | D | 0.531787321 | None | None | N |
| K/F | 0.9427 | likely_pathogenic | 0.9375 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/G | 0.8278 | likely_pathogenic | 0.8045 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/H | 0.5936 | likely_pathogenic | 0.5621 | ambiguous | -0.334 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| K/I | 0.6304 | likely_pathogenic | 0.6269 | pathogenic | 0.326 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| K/L | 0.7003 | likely_pathogenic | 0.6736 | pathogenic | 0.326 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/M | 0.5484 | ambiguous | 0.5437 | ambiguous | 0.098 | Stabilizing | 1.0 | D | 0.623 | neutral | N | 0.512168057 | None | None | N |
| K/N | 0.8612 | likely_pathogenic | 0.8343 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.497075542 | None | None | N |
| K/P | 0.9898 | likely_pathogenic | 0.9883 | pathogenic | 0.253 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| K/Q | 0.303 | likely_benign | 0.2836 | benign | 0.015 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.490136555 | None | None | N |
| K/R | 0.1164 | likely_benign | 0.1118 | benign | -0.013 | Destabilizing | 0.999 | D | 0.613 | neutral | N | 0.483161569 | None | None | N |
| K/S | 0.7487 | likely_pathogenic | 0.7225 | pathogenic | -0.288 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/T | 0.424 | ambiguous | 0.4191 | ambiguous | -0.163 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.487934509 | None | None | N |
| K/V | 0.4875 | ambiguous | 0.5046 | ambiguous | 0.253 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/W | 0.9561 | likely_pathogenic | 0.9563 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/Y | 0.8897 | likely_pathogenic | 0.88 | pathogenic | 0.006 | Stabilizing | 1.0 | D | 0.683 | 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.