Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 90 | 493;494;495 | chr2:178802165;178802164;178802163 | chr2:179666892;179666891;179666890 |
| N2AB | 90 | 493;494;495 | chr2:178802165;178802164;178802163 | chr2:179666892;179666891;179666890 |
| N2A | 90 | 493;494;495 | chr2:178802165;178802164;178802163 | chr2:179666892;179666891;179666890 |
| N2B | 90 | 493;494;495 | chr2:178802165;178802164;178802163 | chr2:179666892;179666891;179666890 |
| Novex-1 | 90 | 493;494;495 | chr2:178802165;178802164;178802163 | chr2:179666892;179666891;179666890 |
| Novex-2 | 90 | 493;494;495 | chr2:178802165;178802164;178802163 | chr2:179666892;179666891;179666890 |
| Novex-3 | 90 | 493;494;495 | chr2:178802165;178802164;178802163 | chr2:179666892;179666891;179666890 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.994 | N | 0.544 | 0.432 | 0.422040124859 | gnomAD-4.0.0 | 1.59048E-06 | None | None | None | -0.589(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85651E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1288 | likely_benign | 0.1154 | benign | -0.663 | Destabilizing | 0.994 | D | 0.544 | neutral | N | 0.512025103 | None | -0.589(TCAP) | N |
| T/C | 0.8758 | likely_pathogenic | 0.8169 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | -0.525(TCAP) | N |
| T/D | 0.6847 | likely_pathogenic | 0.5806 | pathogenic | 0.389 | Stabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | -1.105(TCAP) | N |
| T/E | 0.5235 | ambiguous | 0.425 | ambiguous | 0.369 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | -1.178(TCAP) | N |
| T/F | 0.4575 | ambiguous | 0.3585 | ambiguous | -0.892 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | -0.326(TCAP) | N |
| T/G | 0.4947 | ambiguous | 0.4261 | ambiguous | -0.876 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | -0.58(TCAP) | N |
| T/H | 0.5818 | likely_pathogenic | 0.4707 | ambiguous | -1.076 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | 0.129(TCAP) | N |
| T/I | 0.2806 | likely_benign | 0.2046 | benign | -0.203 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.522069886 | None | -0.666(TCAP) | N |
| T/K | 0.508 | ambiguous | 0.4027 | ambiguous | -0.425 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | -1.614(TCAP) | N |
| T/L | 0.2033 | likely_benign | 0.1665 | benign | -0.203 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | -0.666(TCAP) | N |
| T/M | 0.1654 | likely_benign | 0.1392 | benign | -0.09 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | 0.143(TCAP) | N |
| T/N | 0.2839 | likely_benign | 0.2189 | benign | -0.329 | Destabilizing | 0.999 | D | 0.755 | deleterious | D | 0.546062406 | None | -1.001(TCAP) | N |
| T/P | 0.5277 | ambiguous | 0.4986 | ambiguous | -0.324 | Destabilizing | 0.999 | D | 0.846 | deleterious | D | 0.716460298 | None | -0.632(TCAP) | N |
| T/Q | 0.4391 | ambiguous | 0.345 | ambiguous | -0.468 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | -1.138(TCAP) | N |
| T/R | 0.4434 | ambiguous | 0.3342 | benign | -0.216 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -1.25(TCAP) | N |
| T/S | 0.1641 | likely_benign | 0.139 | benign | -0.653 | Destabilizing | 0.994 | D | 0.522 | neutral | N | 0.501108563 | None | -1.315(TCAP) | N |
| T/V | 0.2107 | likely_benign | 0.1639 | benign | -0.324 | Destabilizing | 1.0 | D | 0.576 | neutral | None | None | None | -0.632(TCAP) | N |
| T/W | 0.8571 | likely_pathogenic | 0.7839 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | -0.189(TCAP) | N |
| T/Y | 0.6131 | likely_pathogenic | 0.4966 | ambiguous | -0.577 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | -0.009(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.