Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2463 | 7612;7613;7614 | chr2:178773669;178773668;178773667 | chr2:179638396;179638395;179638394 |
| N2AB | 2463 | 7612;7613;7614 | chr2:178773669;178773668;178773667 | chr2:179638396;179638395;179638394 |
| N2A | 2463 | 7612;7613;7614 | chr2:178773669;178773668;178773667 | chr2:179638396;179638395;179638394 |
| N2B | 2417 | 7474;7475;7476 | chr2:178773669;178773668;178773667 | chr2:179638396;179638395;179638394 |
| Novex-1 | 2417 | 7474;7475;7476 | chr2:178773669;178773668;178773667 | chr2:179638396;179638395;179638394 |
| Novex-2 | 2417 | 7474;7475;7476 | chr2:178773669;178773668;178773667 | chr2:179638396;179638395;179638394 |
| Novex-3 | 2463 | 7612;7613;7614 | chr2:178773669;178773668;178773667 | chr2:179638396;179638395;179638394 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.334 | N | 0.585 | 0.174 | 0.46435556306 | gnomAD-4.0.0 | 1.59072E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 0 | 0 | 0 |
| V/E | rs755393409  |
-1.077 | 0.781 | N | 0.723 | 0.437 | 0.66941582999 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| V/E | rs755393409 |
-1.077 | 0.781 | N | 0.723 | 0.437 | 0.66941582999 | gnomAD-4.0.0 | 1.59072E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85675E-06 | 0 | 0 |
| V/M | None | None | 0.638 | N | 0.666 | 0.149 | 0.30921473904 | gnomAD-4.0.0 | 1.59075E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85678E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3905 | ambiguous | 0.3881 | ambiguous | -1.254 | Destabilizing | 0.334 | N | 0.585 | neutral | N | 0.473710899 | None | None | N |
| V/C | 0.8651 | likely_pathogenic | 0.862 | pathogenic | -0.832 | Destabilizing | 0.982 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/D | 0.7583 | likely_pathogenic | 0.7667 | pathogenic | -1.207 | Destabilizing | 0.826 | D | 0.768 | deleterious | None | None | None | None | N |
| V/E | 0.5781 | likely_pathogenic | 0.5999 | pathogenic | -1.2 | Destabilizing | 0.781 | D | 0.723 | prob.delet. | N | 0.451743356 | None | None | N |
| V/F | 0.2754 | likely_benign | 0.2729 | benign | -0.885 | Destabilizing | 0.7 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/G | 0.5464 | ambiguous | 0.5439 | ambiguous | -1.56 | Destabilizing | 0.781 | D | 0.754 | deleterious | D | 0.596210365 | None | None | N |
| V/H | 0.807 | likely_pathogenic | 0.807 | pathogenic | -1.058 | Destabilizing | 0.982 | D | 0.743 | deleterious | None | None | None | None | N |
| V/I | 0.0793 | likely_benign | 0.0787 | benign | -0.517 | Destabilizing | 0.002 | N | 0.307 | neutral | None | None | None | None | N |
| V/K | 0.6987 | likely_pathogenic | 0.7172 | pathogenic | -1.241 | Destabilizing | 0.826 | D | 0.73 | prob.delet. | None | None | None | None | N |
| V/L | 0.2695 | likely_benign | 0.2686 | benign | -0.517 | Destabilizing | 0.002 | N | 0.403 | neutral | N | 0.442793593 | None | None | N |
| V/M | 0.1936 | likely_benign | 0.1906 | benign | -0.451 | Destabilizing | 0.638 | D | 0.666 | neutral | N | 0.503038434 | None | None | N |
| V/N | 0.5056 | ambiguous | 0.5072 | ambiguous | -1.053 | Destabilizing | 0.935 | D | 0.769 | deleterious | None | None | None | None | N |
| V/P | 0.9551 | likely_pathogenic | 0.9542 | pathogenic | -0.728 | Destabilizing | 0.935 | D | 0.744 | deleterious | None | None | None | None | N |
| V/Q | 0.5963 | likely_pathogenic | 0.6092 | pathogenic | -1.192 | Destabilizing | 0.935 | D | 0.745 | deleterious | None | None | None | None | N |
| V/R | 0.6647 | likely_pathogenic | 0.6871 | pathogenic | -0.709 | Destabilizing | 0.826 | D | 0.77 | deleterious | None | None | None | None | N |
| V/S | 0.3933 | ambiguous | 0.3938 | ambiguous | -1.507 | Destabilizing | 0.826 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/T | 0.2939 | likely_benign | 0.2901 | benign | -1.393 | Destabilizing | 0.399 | N | 0.59 | neutral | None | None | None | None | N |
| V/W | 0.9271 | likely_pathogenic | 0.9246 | pathogenic | -1.101 | Destabilizing | 0.982 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/Y | 0.7298 | likely_pathogenic | 0.7333 | pathogenic | -0.807 | Destabilizing | 0.826 | D | 0.715 | prob.delet. | 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.