Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34263 | 103012;103013;103014 | chr2:178533828;178533827;178533826 | chr2:179398555;179398554;179398553 |
| N2AB | 32622 | 98089;98090;98091 | chr2:178533828;178533827;178533826 | chr2:179398555;179398554;179398553 |
| N2A | 31695 | 95308;95309;95310 | chr2:178533828;178533827;178533826 | chr2:179398555;179398554;179398553 |
| N2B | 25198 | 75817;75818;75819 | chr2:178533828;178533827;178533826 | chr2:179398555;179398554;179398553 |
| Novex-1 | 25323 | 76192;76193;76194 | chr2:178533828;178533827;178533826 | chr2:179398555;179398554;179398553 |
| Novex-2 | 25390 | 76393;76394;76395 | chr2:178533828;178533827;178533826 | chr2:179398555;179398554;179398553 |
| 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 | rs1690264477  |
None | 1.0 | N | 0.817 | 0.374 | 0.219573609325 | 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 |
| P/S | rs1690264477 |
None | 1.0 | N | 0.817 | 0.374 | 0.219573609325 | gnomAD-4.0.0 | 4.05983E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61484E-06 | 0 | 3.40229E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4007 | ambiguous | 0.5545 | ambiguous | -0.843 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.451585559 | None | None | N |
| P/C | 0.9129 | likely_pathogenic | 0.9622 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/D | 0.9377 | likely_pathogenic | 0.9676 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/E | 0.8273 | likely_pathogenic | 0.9115 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/F | 0.9462 | likely_pathogenic | 0.9775 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/G | 0.8102 | likely_pathogenic | 0.8972 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/H | 0.7064 | likely_pathogenic | 0.8522 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.444281405 | None | None | N |
| P/I | 0.9206 | likely_pathogenic | 0.9632 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/K | 0.8364 | likely_pathogenic | 0.9207 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/L | 0.5507 | ambiguous | 0.7212 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.492310055 | None | None | N |
| P/M | 0.8911 | likely_pathogenic | 0.9483 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| P/N | 0.9037 | likely_pathogenic | 0.9541 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/Q | 0.6275 | likely_pathogenic | 0.791 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/R | 0.6504 | likely_pathogenic | 0.8053 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.46248858 | None | None | N |
| P/S | 0.5899 | likely_pathogenic | 0.7448 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.438797221 | None | None | N |
| P/T | 0.6408 | likely_pathogenic | 0.7987 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.49581172 | None | None | N |
| P/V | 0.8156 | likely_pathogenic | 0.8998 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/W | 0.9711 | likely_pathogenic | 0.9886 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/Y | 0.9201 | likely_pathogenic | 0.9677 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.772 | 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.