Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9758 | 29497;29498;29499 | chr2:178706602;178706601;178706600 | chr2:179571329;179571328;179571327 |
| N2AB | 9441 | 28546;28547;28548 | chr2:178706602;178706601;178706600 | chr2:179571329;179571328;179571327 |
| N2A | 8514 | 25765;25766;25767 | chr2:178706602;178706601;178706600 | chr2:179571329;179571328;179571327 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/S | None | None | 1.0 | None | 0.872 | 0.835 | 0.871492119684 | gnomAD-4.0.0 | 2.05247E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69826E-06 | 0 | 0 |
| I/V | None | None | 0.993 | None | 0.399 | 0.469 | 0.708901879958 | gnomAD-4.0.0 | 1.59097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9969 | likely_pathogenic | 0.9889 | pathogenic | -3.025 | Highly Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| I/C | 0.9971 | likely_pathogenic | 0.9892 | pathogenic | -2.631 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| I/D | 0.9995 | likely_pathogenic | 0.9978 | pathogenic | -3.636 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| I/E | 0.9982 | likely_pathogenic | 0.9937 | pathogenic | -3.393 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| I/F | 0.8178 | likely_pathogenic | 0.5298 | ambiguous | -1.833 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| I/G | 0.9989 | likely_pathogenic | 0.9956 | pathogenic | -3.587 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| I/H | 0.9981 | likely_pathogenic | 0.9899 | pathogenic | -2.951 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| I/K | 0.9958 | likely_pathogenic | 0.9831 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| I/L | 0.6329 | likely_pathogenic | 0.4117 | ambiguous | -1.374 | Destabilizing | 0.993 | D | 0.438 | neutral | None | None | None | None | N |
| I/M | 0.5465 | ambiguous | 0.2965 | benign | -1.53 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| I/N | 0.992 | likely_pathogenic | 0.9689 | pathogenic | -2.921 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| I/P | 0.9997 | likely_pathogenic | 0.999 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| I/Q | 0.9973 | likely_pathogenic | 0.9884 | pathogenic | -2.767 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| I/R | 0.9947 | likely_pathogenic | 0.9781 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| I/S | 0.9961 | likely_pathogenic | 0.9837 | pathogenic | -3.609 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| I/T | 0.9963 | likely_pathogenic | 0.9861 | pathogenic | -3.216 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| I/V | 0.4705 | ambiguous | 0.3792 | ambiguous | -1.909 | Destabilizing | 0.993 | D | 0.399 | neutral | None | None | None | None | N |
| I/W | 0.9941 | likely_pathogenic | 0.9727 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| I/Y | 0.9823 | likely_pathogenic | 0.9222 | pathogenic | -2.016 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | 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.