Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1772 | 5539;5540;5541 | chr2:178776550;178776549;178776548 | chr2:179641277;179641276;179641275 |
| N2AB | 1772 | 5539;5540;5541 | chr2:178776550;178776549;178776548 | chr2:179641277;179641276;179641275 |
| N2A | 1772 | 5539;5540;5541 | chr2:178776550;178776549;178776548 | chr2:179641277;179641276;179641275 |
| N2B | 1726 | 5401;5402;5403 | chr2:178776550;178776549;178776548 | chr2:179641277;179641276;179641275 |
| Novex-1 | 1726 | 5401;5402;5403 | chr2:178776550;178776549;178776548 | chr2:179641277;179641276;179641275 |
| Novex-2 | 1726 | 5401;5402;5403 | chr2:178776550;178776549;178776548 | chr2:179641277;179641276;179641275 |
| Novex-3 | 1772 | 5539;5540;5541 | chr2:178776550;178776549;178776548 | chr2:179641277;179641276;179641275 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs150725992  |
-0.999 | 0.999 | D | 0.54 | 0.462 | None | gnomAD-2.1.1 | 1.03114E-04 | None | None | None | None | I | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.17466E-04 | 0 |
| S/G | rs150725992 |
-0.999 | 0.999 | D | 0.54 | 0.462 | None | gnomAD-3.1.2 | 8.54E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.76398E-04 | 0 | 0 |
| S/G | rs150725992 |
-0.999 | 0.999 | D | 0.54 | 0.462 | None | gnomAD-4.0.0 | 1.6252E-04 | None | None | None | None | I | None | 1.33451E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.17797E-04 | 0 | 6.40266E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2835 | likely_benign | 0.2098 | benign | -0.756 | Destabilizing | 0.998 | D | 0.422 | neutral | None | None | None | None | I |
| S/C | 0.5389 | ambiguous | 0.4041 | ambiguous | -0.496 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.753155739 | None | None | I |
| S/D | 0.9666 | likely_pathogenic | 0.9589 | pathogenic | -0.117 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | I |
| S/E | 0.971 | likely_pathogenic | 0.9617 | pathogenic | -0.148 | Destabilizing | 0.999 | D | 0.574 | neutral | None | None | None | None | I |
| S/F | 0.9696 | likely_pathogenic | 0.9403 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| S/G | 0.3263 | likely_benign | 0.2875 | benign | -0.963 | Destabilizing | 0.999 | D | 0.54 | neutral | D | 0.57501618 | None | None | I |
| S/H | 0.9452 | likely_pathogenic | 0.9181 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| S/I | 0.9356 | likely_pathogenic | 0.8881 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.581867538 | None | None | I |
| S/K | 0.992 | likely_pathogenic | 0.9874 | pathogenic | -0.625 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | I |
| S/L | 0.7877 | likely_pathogenic | 0.6913 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| S/M | 0.8205 | likely_pathogenic | 0.7625 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| S/N | 0.707 | likely_pathogenic | 0.677 | pathogenic | -0.521 | Destabilizing | 0.999 | D | 0.558 | neutral | D | 0.571049552 | None | None | I |
| S/P | 0.9808 | likely_pathogenic | 0.9709 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| S/Q | 0.9497 | likely_pathogenic | 0.9338 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| S/R | 0.9847 | likely_pathogenic | 0.9735 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.629259041 | None | None | I |
| S/T | 0.2063 | likely_benign | 0.1945 | benign | -0.616 | Destabilizing | 0.999 | D | 0.502 | neutral | N | 0.508306202 | None | None | I |
| S/V | 0.8907 | likely_pathogenic | 0.8179 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| S/W | 0.983 | likely_pathogenic | 0.9642 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| S/Y | 0.9509 | likely_pathogenic | 0.9051 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | 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.