Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9919 | 29980;29981;29982 | chr2:178704717;178704716;178704715 | chr2:179569444;179569443;179569442 |
| N2AB | 9602 | 29029;29030;29031 | chr2:178704717;178704716;178704715 | chr2:179569444;179569443;179569442 |
| N2A | 8675 | 26248;26249;26250 | chr2:178704717;178704716;178704715 | chr2:179569444;179569443;179569442 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 1.0 | None | 0.889 | 0.86 | 0.857050632475 | gnomAD-4.0.0 | 6.8535E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99721E-07 | 0 | 0 |
| F/L | None | None | 0.999 | None | 0.657 | 0.551 | 0.591496729656 | gnomAD-4.0.0 | 1.5976E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43501E-05 | 0 |
| F/S | None | None | 1.0 | None | 0.901 | 0.878 | 0.873855352421 | gnomAD-4.0.0 | 6.8535E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99721E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -2.432 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/C | 0.9958 | likely_pathogenic | 0.9963 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.345 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.093 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/G | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/H | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/I | 0.9787 | likely_pathogenic | 0.982 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.89 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/L | 0.9947 | likely_pathogenic | 0.9952 | pathogenic | -0.885 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| F/M | 0.9811 | likely_pathogenic | 0.9839 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| F/N | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.598 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.373 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| F/R | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| F/S | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -3.017 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/T | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.638 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| F/V | 0.9856 | likely_pathogenic | 0.987 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| F/W | 0.9651 | likely_pathogenic | 0.9695 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| F/Y | 0.9164 | likely_pathogenic | 0.9261 | pathogenic | -0.613 | Destabilizing | 0.999 | D | 0.637 | 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.