Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2548 | 7867;7868;7869 | chr2:178773322;178773321;178773320 | chr2:179638049;179638048;179638047 |
| N2AB | 2548 | 7867;7868;7869 | chr2:178773322;178773321;178773320 | chr2:179638049;179638048;179638047 |
| N2A | 2548 | 7867;7868;7869 | chr2:178773322;178773321;178773320 | chr2:179638049;179638048;179638047 |
| N2B | 2502 | 7729;7730;7731 | chr2:178773322;178773321;178773320 | chr2:179638049;179638048;179638047 |
| Novex-1 | 2502 | 7729;7730;7731 | chr2:178773322;178773321;178773320 | chr2:179638049;179638048;179638047 |
| Novex-2 | 2502 | 7729;7730;7731 | chr2:178773322;178773321;178773320 | chr2:179638049;179638048;179638047 |
| Novex-3 | 2548 | 7867;7868;7869 | chr2:178773322;178773321;178773320 | chr2:179638049;179638048;179638047 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.999 | N | 0.371 | 0.242 | 0.124217242631 | 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 |
| Q/R | rs2091804454  |
None | 0.98 | N | 0.414 | 0.301 | 0.12205267543 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4427 | ambiguous | 0.4542 | ambiguous | -0.265 | Destabilizing | 0.985 | D | 0.391 | neutral | None | None | None | None | N |
| Q/C | 0.892 | likely_pathogenic | 0.9163 | pathogenic | 0.356 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| Q/D | 0.5014 | ambiguous | 0.5193 | ambiguous | -0.8 | Destabilizing | 0.971 | D | 0.363 | neutral | None | None | None | None | N |
| Q/E | 0.0796 | likely_benign | 0.0753 | benign | -0.787 | Destabilizing | 0.4 | N | 0.171 | neutral | N | 0.426072389 | None | None | N |
| Q/F | 0.9524 | likely_pathogenic | 0.9662 | pathogenic | -0.394 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| Q/G | 0.4352 | ambiguous | 0.4368 | ambiguous | -0.534 | Destabilizing | 0.993 | D | 0.451 | neutral | None | None | None | None | N |
| Q/H | 0.5625 | ambiguous | 0.6062 | pathogenic | -0.735 | Destabilizing | 0.999 | D | 0.371 | neutral | N | 0.455724216 | None | None | N |
| Q/I | 0.8417 | likely_pathogenic | 0.8481 | pathogenic | 0.377 | Stabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| Q/K | 0.1751 | likely_benign | 0.1666 | benign | -0.109 | Destabilizing | 0.953 | D | 0.432 | neutral | N | 0.468348604 | None | None | N |
| Q/L | 0.4668 | ambiguous | 0.4809 | ambiguous | 0.377 | Stabilizing | 0.99 | D | 0.429 | neutral | D | 0.540756716 | None | None | N |
| Q/M | 0.6238 | likely_pathogenic | 0.6623 | pathogenic | 0.98 | Stabilizing | 0.999 | D | 0.369 | neutral | None | None | None | None | N |
| Q/N | 0.4832 | ambiguous | 0.5058 | ambiguous | -0.51 | Destabilizing | 0.993 | D | 0.375 | neutral | None | None | None | None | N |
| Q/P | 0.9066 | likely_pathogenic | 0.8933 | pathogenic | 0.194 | Stabilizing | 0.999 | D | 0.418 | neutral | D | 0.539336112 | None | None | N |
| Q/R | 0.218 | likely_benign | 0.2173 | benign | 0.008 | Stabilizing | 0.98 | D | 0.414 | neutral | N | 0.453233806 | None | None | N |
| Q/S | 0.4465 | ambiguous | 0.4971 | ambiguous | -0.454 | Destabilizing | 0.985 | D | 0.367 | neutral | None | None | None | None | N |
| Q/T | 0.4443 | ambiguous | 0.4616 | ambiguous | -0.279 | Destabilizing | 0.993 | D | 0.381 | neutral | None | None | None | None | N |
| Q/V | 0.6683 | likely_pathogenic | 0.675 | pathogenic | 0.194 | Stabilizing | 0.998 | D | 0.444 | neutral | None | None | None | None | N |
| Q/W | 0.8983 | likely_pathogenic | 0.9168 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| Q/Y | 0.8398 | likely_pathogenic | 0.8758 | pathogenic | -0.097 | Destabilizing | 0.999 | D | 0.435 | 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.