Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9123 | 27592;27593;27594 | chr2:178712555;178712554;178712553 | chr2:179577282;179577281;179577280 |
| N2AB | 8806 | 26641;26642;26643 | chr2:178712555;178712554;178712553 | chr2:179577282;179577281;179577280 |
| N2A | 7879 | 23860;23861;23862 | chr2:178712555;178712554;178712553 | chr2:179577282;179577281;179577280 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs879134187  |
None | 0.549 | D | 0.445 | 0.385 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs879134187 |
None | 0.549 | D | 0.445 | 0.385 | None | gnomAD-4.0.0 | 3.71925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08651E-06 | 0 | 0 |
| I/V | rs2076812939 |
None | 0.001 | N | 0.107 | 0.188 | 0.296329037015 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| I/V | rs2076812939 |
None | 0.001 | N | 0.107 | 0.188 | 0.296329037015 | gnomAD-4.0.0 | 7.10456E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02462E-06 | 4.69572E-05 | 3.40252E-05 |
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 | 0.1337 | likely_benign | 0.1414 | benign | -2.06 | Highly Destabilizing | 0.25 | N | 0.403 | neutral | None | None | None | None | N |
| I/C | 0.6045 | likely_pathogenic | 0.6224 | pathogenic | -1.355 | Destabilizing | 0.012 | N | 0.292 | neutral | None | None | None | None | N |
| I/D | 0.7127 | likely_pathogenic | 0.6897 | pathogenic | -1.654 | Destabilizing | 0.972 | D | 0.586 | neutral | None | None | None | None | N |
| I/E | 0.4968 | ambiguous | 0.4867 | ambiguous | -1.52 | Destabilizing | 0.92 | D | 0.601 | neutral | None | None | None | None | N |
| I/F | 0.1728 | likely_benign | 0.1704 | benign | -1.216 | Destabilizing | 0.739 | D | 0.496 | neutral | None | None | None | None | N |
| I/G | 0.5142 | ambiguous | 0.5143 | ambiguous | -2.521 | Highly Destabilizing | 0.92 | D | 0.597 | neutral | None | None | None | None | N |
| I/H | 0.5248 | ambiguous | 0.5254 | ambiguous | -1.853 | Destabilizing | 0.992 | D | 0.552 | neutral | None | None | None | None | N |
| I/K | 0.3726 | ambiguous | 0.38 | ambiguous | -1.374 | Destabilizing | 0.896 | D | 0.604 | neutral | N | 0.490660442 | None | None | N |
| I/L | 0.076 | likely_benign | 0.0818 | benign | -0.786 | Destabilizing | 0.002 | N | 0.089 | neutral | N | 0.475531393 | None | None | N |
| I/M | 0.0764 | likely_benign | 0.0769 | benign | -0.735 | Destabilizing | 0.81 | D | 0.509 | neutral | N | 0.493774314 | None | None | N |
| I/N | 0.3339 | likely_benign | 0.33 | benign | -1.42 | Destabilizing | 0.972 | D | 0.594 | neutral | None | None | None | None | N |
| I/P | 0.7778 | likely_pathogenic | 0.7503 | pathogenic | -1.185 | Destabilizing | 0.972 | D | 0.587 | neutral | None | None | None | None | N |
| I/Q | 0.3754 | ambiguous | 0.3823 | ambiguous | -1.414 | Destabilizing | 0.972 | D | 0.594 | neutral | None | None | None | None | N |
| I/R | 0.264 | likely_benign | 0.2762 | benign | -1.017 | Destabilizing | 0.896 | D | 0.59 | neutral | D | 0.536966641 | None | None | N |
| I/S | 0.2153 | likely_benign | 0.2151 | benign | -2.168 | Highly Destabilizing | 0.766 | D | 0.522 | neutral | None | None | None | None | N |
| I/T | 0.0837 | likely_benign | 0.0862 | benign | -1.9 | Destabilizing | 0.549 | D | 0.445 | neutral | D | 0.523978701 | None | None | N |
| I/V | 0.0617 | likely_benign | 0.0607 | benign | -1.185 | Destabilizing | 0.001 | N | 0.107 | neutral | N | 0.385039888 | None | None | N |
| I/W | 0.6753 | likely_pathogenic | 0.6968 | pathogenic | -1.455 | Destabilizing | 0.992 | D | 0.561 | neutral | None | None | None | None | N |
| I/Y | 0.5288 | ambiguous | 0.5588 | ambiguous | -1.173 | Destabilizing | 0.92 | D | 0.554 | 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.