Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9632 | 29119;29120;29121 | chr2:178707673;178707672;178707671 | chr2:179572400;179572399;179572398 |
| N2AB | 9315 | 28168;28169;28170 | chr2:178707673;178707672;178707671 | chr2:179572400;179572399;179572398 |
| N2A | 8388 | 25387;25388;25389 | chr2:178707673;178707672;178707671 | chr2:179572400;179572399;179572398 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1398429600  |
0.286 | 0.549 | None | 0.36 | 0.253 | 0.550210968228 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1398429600 |
0.286 | 0.549 | None | 0.36 | 0.253 | 0.550210968228 | gnomAD-4.0.0 | 6.36436E-06 | None | None | None | None | N | None | 0 | 9.14913E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1223602495 |
None | 0.007 | None | 0.159 | 0.109 | 0.134241683229 | 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 | rs1223602495 |
None | 0.007 | None | 0.159 | 0.109 | 0.134241683229 | gnomAD-4.0.0 | 1.15283E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.15338E-05 | 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 | 0.0681 | likely_benign | 0.0687 | benign | -0.552 | Destabilizing | 0.002 | N | 0.175 | neutral | None | None | None | None | N |
| P/C | 0.6374 | likely_pathogenic | 0.5573 | ambiguous | -0.731 | Destabilizing | 0.992 | D | 0.346 | neutral | None | None | None | None | N |
| P/D | 0.4762 | ambiguous | 0.397 | ambiguous | -0.102 | Destabilizing | 0.617 | D | 0.278 | neutral | None | None | None | None | N |
| P/E | 0.2966 | likely_benign | 0.2637 | benign | -0.179 | Destabilizing | 0.617 | D | 0.293 | neutral | None | None | None | None | N |
| P/F | 0.49 | ambiguous | 0.3968 | ambiguous | -0.637 | Destabilizing | 0.92 | D | 0.358 | neutral | None | None | None | None | N |
| P/G | 0.2692 | likely_benign | 0.2552 | benign | -0.714 | Destabilizing | 0.25 | N | 0.277 | neutral | None | None | None | None | N |
| P/H | 0.2086 | likely_benign | 0.1749 | benign | -0.202 | Destabilizing | 0.97 | D | 0.336 | neutral | None | None | None | None | N |
| P/I | 0.3123 | likely_benign | 0.2667 | benign | -0.259 | Destabilizing | 0.85 | D | 0.376 | neutral | None | None | None | None | N |
| P/K | 0.3065 | likely_benign | 0.266 | benign | -0.438 | Destabilizing | 0.447 | N | 0.289 | neutral | None | None | None | None | N |
| P/L | 0.126 | likely_benign | 0.104 | benign | -0.259 | Destabilizing | 0.549 | D | 0.36 | neutral | None | None | None | None | N |
| P/M | 0.3247 | likely_benign | 0.285 | benign | -0.473 | Destabilizing | 0.972 | D | 0.337 | neutral | None | None | None | None | N |
| P/N | 0.2894 | likely_benign | 0.2621 | benign | -0.254 | Destabilizing | 0.447 | N | 0.369 | neutral | None | None | None | None | N |
| P/Q | 0.1478 | likely_benign | 0.1335 | benign | -0.413 | Destabilizing | 0.85 | D | 0.303 | neutral | None | None | None | None | N |
| P/R | 0.2024 | likely_benign | 0.1625 | benign | 0.001 | Stabilizing | 0.81 | D | 0.363 | neutral | None | None | None | None | N |
| P/S | 0.1072 | likely_benign | 0.1021 | benign | -0.671 | Destabilizing | 0.007 | N | 0.159 | neutral | None | None | None | None | N |
| P/T | 0.1007 | likely_benign | 0.0912 | benign | -0.633 | Destabilizing | 0.016 | N | 0.227 | neutral | None | None | None | None | N |
| P/V | 0.2064 | likely_benign | 0.1822 | benign | -0.322 | Destabilizing | 0.447 | N | 0.342 | neutral | None | None | None | None | N |
| P/W | 0.6802 | likely_pathogenic | 0.5698 | pathogenic | -0.725 | Destabilizing | 0.992 | D | 0.443 | neutral | None | None | None | None | N |
| P/Y | 0.4303 | ambiguous | 0.3582 | ambiguous | -0.431 | Destabilizing | 0.972 | D | 0.352 | 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.