Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10162 | 30709;30710;30711 | chr2:178702195;178702194;178702193 | chr2:179566922;179566921;179566920 |
| N2AB | 9845 | 29758;29759;29760 | chr2:178702195;178702194;178702193 | chr2:179566922;179566921;179566920 |
| N2A | 8918 | 26977;26978;26979 | chr2:178702195;178702194;178702193 | chr2:179566922;179566921;179566920 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/M | rs200593368  |
-1.242 | 1.0 | None | 0.767 | 0.335 | None | gnomAD-2.1.1 | 3.95463E-04 | None | None | None | None | N | None | 1.23967E-04 | 2.83E-05 | None | 0 | 0 | None | 3.27E-05 | None | 1.19914E-04 | 7.70656E-04 | 5.60067E-04 |
| T/M | rs200593368 |
-1.242 | 1.0 | None | 0.767 | 0.335 | None | gnomAD-3.1.2 | 2.8269E-04 | None | None | None | None | N | None | 4.83E-05 | 1.30924E-04 | 0 | 0 | 0 | None | 0 | 0 | 5.73361E-04 | 0 | 0 |
| T/M | rs200593368 |
-1.242 | 1.0 | None | 0.767 | 0.335 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/M | rs200593368 |
-1.242 | 1.0 | None | 0.767 | 0.335 | None | gnomAD-4.0.0 | 5.68179E-04 | None | None | None | None | N | None | 7.99723E-05 | 8.33056E-05 | None | 0 | 0 | None | 1.87553E-04 | 0 | 7.40757E-04 | 1.09791E-05 | 3.04097E-04 |
| T/R | None | None | 1.0 | None | 0.812 | 0.396 | 0.375147631797 | gnomAD-4.0.0 | 6.84135E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4961 | ambiguous | 0.6284 | pathogenic | -0.687 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| T/C | 0.9639 | likely_pathogenic | 0.9787 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/D | 0.9343 | likely_pathogenic | 0.9622 | pathogenic | 0.317 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| T/E | 0.8169 | likely_pathogenic | 0.8947 | pathogenic | 0.273 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| T/F | 0.8649 | likely_pathogenic | 0.924 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| T/G | 0.9061 | likely_pathogenic | 0.9337 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/H | 0.846 | likely_pathogenic | 0.9043 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| T/I | 0.7689 | likely_pathogenic | 0.8761 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| T/K | 0.7862 | likely_pathogenic | 0.875 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| T/L | 0.6548 | likely_pathogenic | 0.7691 | pathogenic | -0.309 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/M | 0.4181 | ambiguous | 0.5723 | pathogenic | -0.077 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/N | 0.7175 | likely_pathogenic | 0.8128 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/P | 0.8924 | likely_pathogenic | 0.9174 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/Q | 0.7345 | likely_pathogenic | 0.834 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| T/R | 0.7492 | likely_pathogenic | 0.8484 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| T/S | 0.4579 | ambiguous | 0.594 | pathogenic | -0.614 | Destabilizing | 0.999 | D | 0.594 | neutral | None | None | None | None | N |
| T/V | 0.5506 | ambiguous | 0.6823 | pathogenic | -0.405 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| T/W | 0.9689 | likely_pathogenic | 0.983 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/Y | 0.8969 | likely_pathogenic | 0.9382 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.809 | 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.