Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3288 | 10087;10088;10089 | chr2:178764653;178764652;178764651 | chr2:179629380;179629379;179629378 |
| N2AB | 3288 | 10087;10088;10089 | chr2:178764653;178764652;178764651 | chr2:179629380;179629379;179629378 |
| N2A | 3288 | 10087;10088;10089 | chr2:178764653;178764652;178764651 | chr2:179629380;179629379;179629378 |
| N2B | 3242 | 9949;9950;9951 | chr2:178764653;178764652;178764651 | chr2:179629380;179629379;179629378 |
| Novex-1 | 3242 | 9949;9950;9951 | chr2:178764653;178764652;178764651 | chr2:179629380;179629379;179629378 |
| Novex-2 | 3242 | 9949;9950;9951 | chr2:178764653;178764652;178764651 | chr2:179629380;179629379;179629378 |
| Novex-3 | 3288 | 10087;10088;10089 | chr2:178764653;178764652;178764651 | chr2:179629380;179629379;179629378 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs1461236000  |
-0.809 | 0.999 | N | 0.467 | 0.261 | 0.667105625577 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs1461236000 |
-0.809 | 0.999 | N | 0.467 | 0.261 | 0.667105625577 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.7903 | likely_pathogenic | 0.8578 | pathogenic | -1.323 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | I |
| L/C | 0.9197 | likely_pathogenic | 0.9481 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | I |
| L/D | 0.9796 | likely_pathogenic | 0.9887 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| L/E | 0.8506 | likely_pathogenic | 0.8973 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| L/F | 0.3931 | ambiguous | 0.549 | ambiguous | -0.995 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.511801318 | None | None | I |
| L/G | 0.959 | likely_pathogenic | 0.9751 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| L/H | 0.6771 | likely_pathogenic | 0.7935 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.674 | neutral | D | 0.539023217 | None | None | I |
| L/I | 0.1766 | likely_benign | 0.2104 | benign | -0.662 | Destabilizing | 0.999 | D | 0.423 | neutral | N | 0.507629082 | None | None | I |
| L/K | 0.8229 | likely_pathogenic | 0.8647 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| L/M | 0.2731 | likely_benign | 0.316 | benign | -0.44 | Destabilizing | 1.0 | D | 0.562 | neutral | None | None | None | None | I |
| L/N | 0.8973 | likely_pathogenic | 0.9318 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| L/P | 0.9825 | likely_pathogenic | 0.9909 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.61189786 | None | None | I |
| L/Q | 0.4667 | ambiguous | 0.5628 | ambiguous | -0.82 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| L/R | 0.6644 | likely_pathogenic | 0.7688 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.52392539 | None | None | I |
| L/S | 0.7964 | likely_pathogenic | 0.8806 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| L/T | 0.711 | likely_pathogenic | 0.8036 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| L/V | 0.2522 | likely_benign | 0.3193 | benign | -0.85 | Destabilizing | 0.999 | D | 0.467 | neutral | N | 0.509319678 | None | None | I |
| L/W | 0.7142 | likely_pathogenic | 0.8207 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| L/Y | 0.8146 | likely_pathogenic | 0.8754 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
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.