Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18279 | 55060;55061;55062 | chr2:178602567;178602566;178602565 | chr2:179467294;179467293;179467292 |
| N2AB | 16638 | 50137;50138;50139 | chr2:178602567;178602566;178602565 | chr2:179467294;179467293;179467292 |
| N2A | 15711 | 47356;47357;47358 | chr2:178602567;178602566;178602565 | chr2:179467294;179467293;179467292 |
| N2B | 9214 | 27865;27866;27867 | chr2:178602567;178602566;178602565 | chr2:179467294;179467293;179467292 |
| Novex-1 | 9339 | 28240;28241;28242 | chr2:178602567;178602566;178602565 | chr2:179467294;179467293;179467292 |
| Novex-2 | 9406 | 28441;28442;28443 | chr2:178602567;178602566;178602565 | chr2:179467294;179467293;179467292 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | None | None | 1.0 | N | 0.856 | 0.466 | 0.488055169367 | gnomAD-4.0.0 | 1.77372E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.14242E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.497 | ambiguous | 0.4268 | ambiguous | -2.074 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | N | 0.497626568 | None | None | N |
| P/C | 0.8854 | likely_pathogenic | 0.837 | pathogenic | -2.107 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/D | 0.9979 | likely_pathogenic | 0.9964 | pathogenic | -2.864 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/E | 0.9901 | likely_pathogenic | 0.9856 | pathogenic | -2.648 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/F | 0.9632 | likely_pathogenic | 0.935 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/G | 0.9618 | likely_pathogenic | 0.9386 | pathogenic | -2.603 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/H | 0.9783 | likely_pathogenic | 0.9644 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/I | 0.5955 | likely_pathogenic | 0.5665 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/K | 0.9896 | likely_pathogenic | 0.9836 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/L | 0.3566 | ambiguous | 0.2883 | benign | -0.595 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.512312473 | None | None | N |
| P/M | 0.7895 | likely_pathogenic | 0.7533 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/N | 0.9936 | likely_pathogenic | 0.9906 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/Q | 0.9684 | likely_pathogenic | 0.9514 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.539621976 | None | None | N |
| P/R | 0.9709 | likely_pathogenic | 0.9515 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.905 | deleterious | N | 0.521517721 | None | None | N |
| P/S | 0.9341 | likely_pathogenic | 0.9061 | pathogenic | -2.622 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.516491291 | None | None | N |
| P/T | 0.7644 | likely_pathogenic | 0.7108 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.516237802 | None | None | N |
| P/V | 0.4613 | ambiguous | 0.414 | ambiguous | -1.062 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/W | 0.9933 | likely_pathogenic | 0.986 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/Y | 0.9894 | likely_pathogenic | 0.9806 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.901 | 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.