Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29909 | 89950;89951;89952 | chr2:178553175;178553174;178553173 | chr2:179417902;179417901;179417900 |
| N2AB | 28268 | 85027;85028;85029 | chr2:178553175;178553174;178553173 | chr2:179417902;179417901;179417900 |
| N2A | 27341 | 82246;82247;82248 | chr2:178553175;178553174;178553173 | chr2:179417902;179417901;179417900 |
| N2B | 20844 | 62755;62756;62757 | chr2:178553175;178553174;178553173 | chr2:179417902;179417901;179417900 |
| Novex-1 | 20969 | 63130;63131;63132 | chr2:178553175;178553174;178553173 | chr2:179417902;179417901;179417900 |
| Novex-2 | 21036 | 63331;63332;63333 | chr2:178553175;178553174;178553173 | chr2:179417902;179417901;179417900 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs769543331  |
0.74 | 0.999 | N | 0.655 | 0.477 | 0.425499470309 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| K/E | rs769543331 |
0.74 | 0.999 | N | 0.655 | 0.477 | 0.425499470309 | gnomAD-4.0.0 | 1.11393E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.00079E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7483 | likely_pathogenic | 0.6582 | pathogenic | -0.294 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/C | 0.8408 | likely_pathogenic | 0.7994 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| K/D | 0.8614 | likely_pathogenic | 0.7918 | pathogenic | 0.449 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| K/E | 0.5276 | ambiguous | 0.4089 | ambiguous | 0.49 | Stabilizing | 0.999 | D | 0.655 | neutral | N | 0.518455451 | None | None | N |
| K/F | 0.9138 | likely_pathogenic | 0.8749 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| K/G | 0.8359 | likely_pathogenic | 0.785 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| K/H | 0.4562 | ambiguous | 0.3903 | ambiguous | -0.833 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| K/I | 0.5488 | ambiguous | 0.4519 | ambiguous | 0.285 | Stabilizing | 1.0 | D | 0.791 | deleterious | D | 0.531790108 | None | None | N |
| K/L | 0.62 | likely_pathogenic | 0.5417 | ambiguous | 0.285 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| K/M | 0.4446 | ambiguous | 0.3641 | ambiguous | 0.16 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| K/N | 0.6849 | likely_pathogenic | 0.5873 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.487164495 | None | None | N |
| K/P | 0.928 | likely_pathogenic | 0.8965 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| K/Q | 0.284 | likely_benign | 0.2295 | benign | -0.046 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | D | 0.52722965 | None | None | N |
| K/R | 0.0992 | likely_benign | 0.097 | benign | -0.102 | Destabilizing | 0.999 | D | 0.604 | neutral | N | 0.51976496 | None | None | N |
| K/S | 0.7504 | likely_pathogenic | 0.6608 | pathogenic | -0.563 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| K/T | 0.3875 | ambiguous | 0.3019 | benign | -0.344 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.518783525 | None | None | N |
| K/V | 0.5553 | ambiguous | 0.4615 | ambiguous | 0.121 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| K/W | 0.8778 | likely_pathogenic | 0.8335 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| K/Y | 0.7813 | likely_pathogenic | 0.7181 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.761 | 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.