Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2308 | 7147;7148;7149 | chr2:178774342;178774341;178774340 | chr2:179639069;179639068;179639067 |
| N2AB | 2308 | 7147;7148;7149 | chr2:178774342;178774341;178774340 | chr2:179639069;179639068;179639067 |
| N2A | 2308 | 7147;7148;7149 | chr2:178774342;178774341;178774340 | chr2:179639069;179639068;179639067 |
| N2B | 2262 | 7009;7010;7011 | chr2:178774342;178774341;178774340 | chr2:179639069;179639068;179639067 |
| Novex-1 | 2262 | 7009;7010;7011 | chr2:178774342;178774341;178774340 | chr2:179639069;179639068;179639067 |
| Novex-2 | 2262 | 7009;7010;7011 | chr2:178774342;178774341;178774340 | chr2:179639069;179639068;179639067 |
| Novex-3 | 2308 | 7147;7148;7149 | chr2:178774342;178774341;178774340 | chr2:179639069;179639068;179639067 |
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 | 0.997 | N | 0.347 | 0.567 | 0.656132556037 | gnomAD-4.0.0 | 6.84089E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99326E-07 | 0 | 0 |
| S/P | None | None | 0.005 | N | 0.138 | 0.313 | 0.220303561663 | gnomAD-4.0.0 | 3.18114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| S/Y | rs577966527  |
-0.805 | 0.989 | N | 0.404 | 0.608 | 0.74608019428 | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.11E-05 | 0 |
| S/Y | rs577966527 |
-0.805 | 0.989 | N | 0.404 | 0.608 | 0.74608019428 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| S/Y | rs577966527 |
-0.805 | 0.989 | N | 0.404 | 0.608 | 0.74608019428 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| S/Y | rs577966527 |
-0.805 | 0.989 | N | 0.404 | 0.608 | 0.74608019428 | gnomAD-4.0.0 | 3.40758E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.57638E-05 | 0 | 1.59985E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0684 | likely_benign | 0.0659 | benign | -0.303 | Destabilizing | 0.022 | N | 0.1 | neutral | N | 0.447469597 | None | None | N |
| S/C | 0.1521 | likely_benign | 0.1417 | benign | -0.278 | Destabilizing | 0.997 | D | 0.347 | neutral | N | 0.519566083 | None | None | N |
| S/D | 0.3447 | ambiguous | 0.3363 | benign | 0.223 | Stabilizing | 0.915 | D | 0.273 | neutral | None | None | None | None | N |
| S/E | 0.3986 | ambiguous | 0.3907 | ambiguous | 0.122 | Stabilizing | 0.842 | D | 0.271 | neutral | None | None | None | None | N |
| S/F | 0.2826 | likely_benign | 0.25 | benign | -0.966 | Destabilizing | 0.989 | D | 0.403 | neutral | N | 0.519566083 | None | None | N |
| S/G | 0.0852 | likely_benign | 0.0829 | benign | -0.391 | Destabilizing | 0.688 | D | 0.282 | neutral | None | None | None | None | N |
| S/H | 0.3584 | ambiguous | 0.3398 | benign | -0.887 | Destabilizing | 0.998 | D | 0.341 | neutral | None | None | None | None | N |
| S/I | 0.1951 | likely_benign | 0.172 | benign | -0.205 | Destabilizing | 0.974 | D | 0.403 | neutral | None | None | None | None | N |
| S/K | 0.5517 | ambiguous | 0.5297 | ambiguous | -0.396 | Destabilizing | 0.842 | D | 0.265 | neutral | None | None | None | None | N |
| S/L | 0.1091 | likely_benign | 0.0975 | benign | -0.205 | Destabilizing | 0.842 | D | 0.365 | neutral | None | None | None | None | N |
| S/M | 0.2001 | likely_benign | 0.182 | benign | -0.014 | Destabilizing | 0.998 | D | 0.34 | neutral | None | None | None | None | N |
| S/N | 0.1051 | likely_benign | 0.1012 | benign | -0.149 | Destabilizing | 0.915 | D | 0.371 | neutral | None | None | None | None | N |
| S/P | 0.0822 | likely_benign | 0.0783 | benign | -0.21 | Destabilizing | 0.005 | N | 0.138 | neutral | N | 0.355808152 | None | None | N |
| S/Q | 0.3928 | ambiguous | 0.3741 | ambiguous | -0.383 | Destabilizing | 0.974 | D | 0.339 | neutral | None | None | None | None | N |
| S/R | 0.5264 | ambiguous | 0.4985 | ambiguous | -0.211 | Destabilizing | 0.974 | D | 0.35 | neutral | None | None | None | None | N |
| S/T | 0.0841 | likely_benign | 0.0814 | benign | -0.257 | Destabilizing | 0.625 | D | 0.33 | neutral | N | 0.503476742 | None | None | N |
| S/V | 0.1917 | likely_benign | 0.1707 | benign | -0.21 | Destabilizing | 0.842 | D | 0.38 | neutral | None | None | None | None | N |
| S/W | 0.3976 | ambiguous | 0.3566 | ambiguous | -0.999 | Destabilizing | 0.998 | D | 0.524 | neutral | None | None | None | None | N |
| S/Y | 0.2162 | likely_benign | 0.1909 | benign | -0.701 | Destabilizing | 0.989 | D | 0.404 | neutral | N | 0.519036066 | 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.