Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14211 | 42856;42857;42858 | chr2:178633868;178633867;178633866 | chr2:179498595;179498594;179498593 |
| N2AB | 12570 | 37933;37934;37935 | chr2:178633868;178633867;178633866 | chr2:179498595;179498594;179498593 |
| N2A | 11643 | 35152;35153;35154 | chr2:178633868;178633867;178633866 | chr2:179498595;179498594;179498593 |
| N2B | 5146 | 15661;15662;15663 | chr2:178633868;178633867;178633866 | chr2:179498595;179498594;179498593 |
| Novex-1 | 5271 | 16036;16037;16038 | chr2:178633868;178633867;178633866 | chr2:179498595;179498594;179498593 |
| Novex-2 | 5338 | 16237;16238;16239 | chr2:178633868;178633867;178633866 | chr2:179498595;179498594;179498593 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | 1.0 | D | 0.847 | 0.515 | 0.631293924618 | gnomAD-4.0.0 | 1.59212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77485E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9794 | likely_pathogenic | 0.9792 | pathogenic | -2.871 | Highly Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| I/C | 0.978 | likely_pathogenic | 0.9749 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| I/D | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -3.505 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| I/E | 0.9921 | likely_pathogenic | 0.9953 | pathogenic | -3.173 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| I/F | 0.363 | ambiguous | 0.358 | ambiguous | -1.738 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| I/G | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -3.509 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| I/H | 0.9848 | likely_pathogenic | 0.9883 | pathogenic | -3.165 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| I/K | 0.9818 | likely_pathogenic | 0.9891 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | D | 0.544630459 | None | None | N |
| I/L | 0.316 | likely_benign | 0.3171 | benign | -0.952 | Destabilizing | 0.993 | D | 0.513 | neutral | N | 0.502073517 | None | None | N |
| I/M | 0.2788 | likely_benign | 0.3019 | benign | -1.124 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.544630459 | None | None | N |
| I/N | 0.9654 | likely_pathogenic | 0.9762 | pathogenic | -2.928 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| I/P | 0.9971 | likely_pathogenic | 0.9977 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| I/Q | 0.9827 | likely_pathogenic | 0.9895 | pathogenic | -2.571 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| I/R | 0.9718 | likely_pathogenic | 0.9808 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.544630459 | None | None | N |
| I/S | 0.9824 | likely_pathogenic | 0.9846 | pathogenic | -3.548 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| I/T | 0.9726 | likely_pathogenic | 0.9736 | pathogenic | -3.041 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.544630459 | None | None | N |
| I/V | 0.1911 | likely_benign | 0.18 | benign | -1.582 | Destabilizing | 0.993 | D | 0.459 | neutral | N | 0.449646603 | None | None | N |
| I/W | 0.9489 | likely_pathogenic | 0.9599 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| I/Y | 0.7362 | likely_pathogenic | 0.7945 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.858 | deleterious | 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.