Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9538 | 28837;28838;28839 | chr2:178709707;178709706;178709705 | chr2:179574434;179574433;179574432 |
| N2AB | 9221 | 27886;27887;27888 | chr2:178709707;178709706;178709705 | chr2:179574434;179574433;179574432 |
| N2A | 8294 | 25105;25106;25107 | chr2:178709707;178709706;178709705 | chr2:179574434;179574433;179574432 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.295 | None | 0.287 | 0.263 | 0.256793551483 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | None | None | None | None | 0.153 | 0.1 | 0.0138822411134 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0605 | likely_benign | 0.0565 | benign | -0.193 | Destabilizing | None | N | 0.083 | neutral | None | None | None | None | N |
| S/C | 0.1349 | likely_benign | 0.1285 | benign | -0.378 | Destabilizing | 0.295 | N | 0.287 | neutral | None | None | None | None | N |
| S/D | 0.179 | likely_benign | 0.1734 | benign | -0.163 | Destabilizing | None | N | 0.092 | neutral | None | None | None | None | N |
| S/E | 0.2391 | likely_benign | 0.2233 | benign | -0.276 | Destabilizing | 0.016 | N | 0.167 | neutral | None | None | None | None | N |
| S/F | 0.1754 | likely_benign | 0.1503 | benign | -0.962 | Destabilizing | 0.295 | N | 0.413 | neutral | None | None | None | None | N |
| S/G | 0.0872 | likely_benign | 0.0888 | benign | -0.212 | Destabilizing | None | N | 0.101 | neutral | None | None | None | None | N |
| S/H | 0.2282 | likely_benign | 0.2139 | benign | -0.526 | Destabilizing | None | N | 0.224 | neutral | None | None | None | None | N |
| S/I | 0.1267 | likely_benign | 0.1233 | benign | -0.269 | Destabilizing | 0.072 | N | 0.41 | neutral | None | None | None | None | N |
| S/K | 0.3383 | likely_benign | 0.3191 | benign | -0.414 | Destabilizing | 0.031 | N | 0.147 | neutral | None | None | None | None | N |
| S/L | 0.0867 | likely_benign | 0.0829 | benign | -0.269 | Destabilizing | 0.016 | N | 0.28 | neutral | None | None | None | None | N |
| S/M | 0.1666 | likely_benign | 0.1608 | benign | -0.182 | Destabilizing | 0.356 | N | 0.296 | neutral | None | None | None | None | N |
| S/N | 0.1014 | likely_benign | 0.1049 | benign | -0.151 | Destabilizing | 0.031 | N | 0.158 | neutral | None | None | None | None | N |
| S/P | 0.0735 | likely_benign | 0.0698 | benign | -0.222 | Destabilizing | None | N | 0.153 | neutral | None | None | None | None | N |
| S/Q | 0.2676 | likely_benign | 0.2488 | benign | -0.392 | Destabilizing | 0.072 | N | 0.21 | neutral | None | None | None | None | N |
| S/R | 0.3114 | likely_benign | 0.2864 | benign | -0.159 | Destabilizing | 0.072 | N | 0.363 | neutral | None | None | None | None | N |
| S/T | 0.0763 | likely_benign | 0.0736 | benign | -0.271 | Destabilizing | 0.012 | N | 0.193 | neutral | None | None | None | None | N |
| S/V | 0.1212 | likely_benign | 0.114 | benign | -0.222 | Destabilizing | 0.016 | N | 0.292 | neutral | None | None | None | None | N |
| S/W | 0.296 | likely_benign | 0.2469 | benign | -1.051 | Destabilizing | 0.864 | D | 0.358 | neutral | None | None | None | None | N |
| S/Y | 0.1675 | likely_benign | 0.145 | benign | -0.74 | Destabilizing | 0.171 | N | 0.444 | neutral | 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.