Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30513 | 91762;91763;91764 | chr2:178550994;178550993;178550992 | chr2:179415721;179415720;179415719 |
| N2AB | 28872 | 86839;86840;86841 | chr2:178550994;178550993;178550992 | chr2:179415721;179415720;179415719 |
| N2A | 27945 | 84058;84059;84060 | chr2:178550994;178550993;178550992 | chr2:179415721;179415720;179415719 |
| N2B | 21448 | 64567;64568;64569 | chr2:178550994;178550993;178550992 | chr2:179415721;179415720;179415719 |
| Novex-1 | 21573 | 64942;64943;64944 | chr2:178550994;178550993;178550992 | chr2:179415721;179415720;179415719 |
| Novex-2 | 21640 | 65143;65144;65145 | chr2:178550994;178550993;178550992 | chr2:179415721;179415720;179415719 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs748076186  |
0.422 | 1.0 | N | 0.735 | 0.321 | 0.265010934533 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11982E-04 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/D | rs748076186 |
0.422 | 1.0 | N | 0.735 | 0.321 | 0.265010934533 | gnomAD-4.0.0 | 6.84536E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04923E-05 | None | 0 | 0 | 7.19747E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.434 | ambiguous | 0.5453 | ambiguous | -0.33 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | N | 0.473165013 | None | None | N |
| G/C | 0.7253 | likely_pathogenic | 0.7982 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.595 | neutral | N | 0.476174042 | None | None | N |
| G/D | 0.7624 | likely_pathogenic | 0.8561 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.735 | deleterious | N | 0.424469776 | None | None | N |
| G/E | 0.7775 | likely_pathogenic | 0.8533 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/F | 0.9507 | likely_pathogenic | 0.9726 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.674 | prob.neutral | None | None | None | None | N |
| G/H | 0.8808 | likely_pathogenic | 0.9214 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| G/I | 0.8954 | likely_pathogenic | 0.9433 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.705 | prob.delet. | None | None | None | None | N |
| G/K | 0.8811 | likely_pathogenic | 0.9209 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/L | 0.8934 | likely_pathogenic | 0.9347 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.727 | deleterious | None | None | None | None | N |
| G/M | 0.912 | likely_pathogenic | 0.9469 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| G/N | 0.6922 | likely_pathogenic | 0.7911 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/P | 0.9546 | likely_pathogenic | 0.9757 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.733 | deleterious | None | None | None | None | N |
| G/Q | 0.7816 | likely_pathogenic | 0.842 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/R | 0.7711 | likely_pathogenic | 0.845 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.732 | deleterious | N | 0.499812896 | None | None | N |
| G/S | 0.2716 | likely_benign | 0.3616 | ambiguous | -0.807 | Destabilizing | 1.0 | D | 0.724 | deleterious | N | 0.492481492 | None | None | N |
| G/T | 0.6457 | likely_pathogenic | 0.7542 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/V | 0.7994 | likely_pathogenic | 0.8853 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.738 | deleterious | N | 0.478205473 | None | None | N |
| G/W | 0.931 | likely_pathogenic | 0.9611 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.559 | neutral | None | None | None | None | N |
| G/Y | 0.9197 | likely_pathogenic | 0.9549 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | 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.