Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 74 | 445;446;447 | chr2:178802213;178802212;178802211 | chr2:179666940;179666939;179666938 |
| N2AB | 74 | 445;446;447 | chr2:178802213;178802212;178802211 | chr2:179666940;179666939;179666938 |
| N2A | 74 | 445;446;447 | chr2:178802213;178802212;178802211 | chr2:179666940;179666939;179666938 |
| N2B | 74 | 445;446;447 | chr2:178802213;178802212;178802211 | chr2:179666940;179666939;179666938 |
| Novex-1 | 74 | 445;446;447 | chr2:178802213;178802212;178802211 | chr2:179666940;179666939;179666938 |
| Novex-2 | 74 | 445;446;447 | chr2:178802213;178802212;178802211 | chr2:179666940;179666939;179666938 |
| Novex-3 | 74 | 445;446;447 | chr2:178802213;178802212;178802211 | chr2:179666940;179666939;179666938 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs2094104209  |
None | 0.934 | N | 0.667 | 0.387 | 0.232513804876 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.976(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| N/S | rs774795341 |
-0.96 | 0.488 | N | 0.642 | 0.292 | 0.216624796971 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.682(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| N/S | rs774795341 |
-0.96 | 0.488 | N | 0.642 | 0.292 | 0.216624796971 | gnomAD-4.0.0 | 8.20886E-06 | None | None | None | -0.682(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07918E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3764 | ambiguous | 0.432 | ambiguous | -1.036 | Destabilizing | 0.495 | N | 0.755 | deleterious | None | None | None | -0.777(TCAP) | N |
| N/C | 0.6607 | likely_pathogenic | 0.7129 | pathogenic | -0.167 | Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | -0.949(TCAP) | N |
| N/D | 0.2188 | likely_benign | 0.2733 | benign | -0.457 | Destabilizing | 0.695 | D | 0.658 | neutral | N | 0.203531573 | None | -0.227(TCAP) | N |
| N/E | 0.6913 | likely_pathogenic | 0.7516 | pathogenic | -0.309 | Destabilizing | 0.675 | D | 0.629 | neutral | None | None | None | -0.401(TCAP) | N |
| N/F | 0.655 | likely_pathogenic | 0.6967 | pathogenic | -0.871 | Destabilizing | 0.996 | D | 0.864 | deleterious | None | None | None | -1.415(TCAP) | N |
| N/G | 0.492 | ambiguous | 0.5482 | ambiguous | -1.397 | Destabilizing | 0.955 | D | 0.644 | neutral | None | None | None | -0.71(TCAP) | N |
| N/H | 0.135 | likely_benign | 0.141 | benign | -0.932 | Destabilizing | 0.014 | N | 0.333 | neutral | N | 0.3868844 | None | -0.148(TCAP) | N |
| N/I | 0.396 | ambiguous | 0.4715 | ambiguous | -0.1 | Destabilizing | 0.996 | D | 0.863 | deleterious | N | 0.504814262 | None | -1.024(TCAP) | N |
| N/K | 0.7122 | likely_pathogenic | 0.7796 | pathogenic | -0.052 | Destabilizing | 0.934 | D | 0.667 | neutral | N | 0.496117722 | None | -0.976(TCAP) | N |
| N/L | 0.3938 | ambiguous | 0.4437 | ambiguous | -0.1 | Destabilizing | 0.934 | D | 0.831 | deleterious | None | None | None | -1.024(TCAP) | N |
| N/M | 0.5464 | ambiguous | 0.5978 | pathogenic | 0.279 | Stabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | -0.743(TCAP) | N |
| N/P | 0.9404 | likely_pathogenic | 0.9498 | pathogenic | -0.383 | Destabilizing | 0.985 | D | 0.843 | deleterious | None | None | None | -0.935(TCAP) | N |
| N/Q | 0.531 | ambiguous | 0.5845 | pathogenic | -0.751 | Destabilizing | 0.354 | N | 0.465 | neutral | None | None | None | -0.849(TCAP) | N |
| N/R | 0.7048 | likely_pathogenic | 0.765 | pathogenic | -0.11 | Destabilizing | 0.974 | D | 0.699 | prob.neutral | None | None | None | -1.011(TCAP) | N |
| N/S | 0.1089 | likely_benign | 0.1117 | benign | -1.003 | Destabilizing | 0.488 | N | 0.642 | neutral | N | 0.48898327 | None | -0.682(TCAP) | N |
| N/T | 0.2531 | likely_benign | 0.2985 | benign | -0.629 | Destabilizing | 0.877 | D | 0.694 | prob.neutral | N | 0.504247331 | None | -0.801(TCAP) | N |
| N/V | 0.3993 | ambiguous | 0.4597 | ambiguous | -0.383 | Destabilizing | 0.893 | D | 0.849 | deleterious | None | None | None | -0.935(TCAP) | N |
| N/W | 0.8887 | likely_pathogenic | 0.8956 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | -1.587(TCAP) | N |
| N/Y | 0.2215 | likely_benign | 0.2415 | benign | -0.369 | Destabilizing | 0.99 | D | 0.842 | deleterious | N | 0.49673456 | None | -1.265(TCAP) | 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.