Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30688 | 92287;92288;92289 | chr2:178549660;178549659;178549658 | chr2:179414387;179414386;179414385 |
| N2AB | 29047 | 87364;87365;87366 | chr2:178549660;178549659;178549658 | chr2:179414387;179414386;179414385 |
| N2A | 28120 | 84583;84584;84585 | chr2:178549660;178549659;178549658 | chr2:179414387;179414386;179414385 |
| N2B | 21623 | 65092;65093;65094 | chr2:178549660;178549659;178549658 | chr2:179414387;179414386;179414385 |
| Novex-1 | 21748 | 65467;65468;65469 | chr2:178549660;178549659;178549658 | chr2:179414387;179414386;179414385 |
| Novex-2 | 21815 | 65668;65669;65670 | chr2:178549660;178549659;178549658 | chr2:179414387;179414386;179414385 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | None | None | 1.0 | N | 0.679 | 0.308 | 0.187945064343 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85835E-06 | 0 | 0 |
| N/S | rs371488671  |
-1.084 | 0.999 | N | 0.482 | 0.475 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs371488671 |
-1.084 | 0.999 | N | 0.482 | 0.475 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.23E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs371488671 |
-1.084 | 0.999 | N | 0.482 | 0.475 | None | gnomAD-4.0.0 | 1.97099E-05 | None | None | None | None | N | None | 7.23449E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.7581 | likely_pathogenic | 0.8061 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| N/C | 0.5281 | ambiguous | 0.5727 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.608 | neutral | None | None | None | None | N |
| N/D | 0.7446 | likely_pathogenic | 0.8166 | pathogenic | -0.518 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.482382695 | None | None | N |
| N/E | 0.9143 | likely_pathogenic | 0.9432 | pathogenic | -0.428 | Destabilizing | 0.999 | D | 0.66 | neutral | None | None | None | None | N |
| N/F | 0.8969 | likely_pathogenic | 0.9282 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| N/G | 0.752 | likely_pathogenic | 0.8026 | pathogenic | -1.251 | Destabilizing | 0.999 | D | 0.468 | neutral | None | None | None | None | N |
| N/H | 0.2786 | likely_benign | 0.3389 | benign | -1.001 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.496527449 | None | None | N |
| N/I | 0.7357 | likely_pathogenic | 0.8151 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.478761844 | None | None | N |
| N/K | 0.8348 | likely_pathogenic | 0.898 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.479421768 | None | None | N |
| N/L | 0.7407 | likely_pathogenic | 0.8033 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| N/M | 0.7612 | likely_pathogenic | 0.8275 | pathogenic | 0.416 | Stabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | N |
| N/P | 0.9785 | likely_pathogenic | 0.9821 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| N/Q | 0.7823 | likely_pathogenic | 0.8343 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| N/R | 0.7917 | likely_pathogenic | 0.8596 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| N/S | 0.2279 | likely_benign | 0.2757 | benign | -0.929 | Destabilizing | 0.999 | D | 0.482 | neutral | N | 0.507280373 | None | None | N |
| N/T | 0.5711 | likely_pathogenic | 0.6556 | pathogenic | -0.648 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.458731491 | None | None | N |
| N/V | 0.6949 | likely_pathogenic | 0.7813 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | N |
| N/W | 0.9615 | likely_pathogenic | 0.9704 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| N/Y | 0.5403 | ambiguous | 0.622 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.62 | neutral | N | 0.505766869 | 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.