Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1760 | 5503;5504;5505 | chr2:178776586;178776585;178776584 | chr2:179641313;179641312;179641311 |
| N2AB | 1760 | 5503;5504;5505 | chr2:178776586;178776585;178776584 | chr2:179641313;179641312;179641311 |
| N2A | 1760 | 5503;5504;5505 | chr2:178776586;178776585;178776584 | chr2:179641313;179641312;179641311 |
| N2B | 1714 | 5365;5366;5367 | chr2:178776586;178776585;178776584 | chr2:179641313;179641312;179641311 |
| Novex-1 | 1714 | 5365;5366;5367 | chr2:178776586;178776585;178776584 | chr2:179641313;179641312;179641311 |
| Novex-2 | 1714 | 5365;5366;5367 | chr2:178776586;178776585;178776584 | chr2:179641313;179641312;179641311 |
| Novex-3 | 1760 | 5503;5504;5505 | chr2:178776586;178776585;178776584 | chr2:179641313;179641312;179641311 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 1.0 | N | 0.905 | 0.631 | 0.80913631051 | gnomAD-4.0.0 | 6.8421E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65585E-05 |
| C/Y | None | None | 1.0 | N | 0.902 | 0.623 | 0.715887026869 | gnomAD-4.0.0 | 6.8421E-07 | None | None | None | None | I | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.846 | likely_pathogenic | 0.8351 | pathogenic | -1.853 | Destabilizing | 0.998 | D | 0.646 | neutral | None | None | None | None | I |
| C/D | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| C/E | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| C/F | 0.914 | likely_pathogenic | 0.9535 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.905 | deleterious | N | 0.483877299 | None | None | I |
| C/G | 0.8512 | likely_pathogenic | 0.8807 | pathogenic | -2.205 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.45951608 | None | None | I |
| C/H | 0.99 | likely_pathogenic | 0.9957 | pathogenic | -2.398 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| C/I | 0.9514 | likely_pathogenic | 0.9572 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| C/K | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| C/L | 0.9061 | likely_pathogenic | 0.9225 | pathogenic | -0.895 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | I |
| C/M | 0.9724 | likely_pathogenic | 0.9736 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| C/N | 0.9892 | likely_pathogenic | 0.9925 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | I |
| C/P | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| C/Q | 0.9963 | likely_pathogenic | 0.9979 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| C/R | 0.9938 | likely_pathogenic | 0.9974 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.903 | deleterious | N | 0.492565228 | None | None | I |
| C/S | 0.8713 | likely_pathogenic | 0.8834 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.443512038 | None | None | I |
| C/T | 0.9289 | likely_pathogenic | 0.9246 | pathogenic | -1.9 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| C/V | 0.8741 | likely_pathogenic | 0.8769 | pathogenic | -1.193 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | I |
| C/W | 0.9916 | likely_pathogenic | 0.9964 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.504217862 | None | None | I |
| C/Y | 0.972 | likely_pathogenic | 0.9887 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.902 | deleterious | N | 0.476943196 | None | None | I |
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.