Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15056 | 45391;45392;45393 | chr2:178621658;178621657;178621656 | chr2:179486385;179486384;179486383 |
| N2AB | 13415 | 40468;40469;40470 | chr2:178621658;178621657;178621656 | chr2:179486385;179486384;179486383 |
| N2A | 12488 | 37687;37688;37689 | chr2:178621658;178621657;178621656 | chr2:179486385;179486384;179486383 |
| N2B | 5991 | 18196;18197;18198 | chr2:178621658;178621657;178621656 | chr2:179486385;179486384;179486383 |
| Novex-1 | 6116 | 18571;18572;18573 | chr2:178621658;178621657;178621656 | chr2:179486385;179486384;179486383 |
| Novex-2 | 6183 | 18772;18773;18774 | chr2:178621658;178621657;178621656 | chr2:179486385;179486384;179486383 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/I | None | None | 1.0 | D | 0.733 | 0.662 | 0.732782589432 | 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 |
| K/R | None | None | 0.999 | D | 0.65 | 0.476 | 0.634805254685 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6749 | likely_pathogenic | 0.6865 | pathogenic | -0.015 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/C | 0.8932 | likely_pathogenic | 0.9094 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/D | 0.8932 | likely_pathogenic | 0.8963 | pathogenic | 0.236 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/E | 0.4151 | ambiguous | 0.4018 | ambiguous | 0.257 | Stabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.518289511 | None | None | N |
| K/F | 0.9025 | likely_pathogenic | 0.914 | pathogenic | -0.159 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| K/G | 0.8058 | likely_pathogenic | 0.8073 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/H | 0.5429 | ambiguous | 0.5645 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| K/I | 0.517 | ambiguous | 0.5328 | ambiguous | 0.488 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.546814181 | None | None | N |
| K/L | 0.5063 | ambiguous | 0.5426 | ambiguous | 0.488 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/M | 0.4419 | ambiguous | 0.4475 | ambiguous | 0.24 | Stabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| K/N | 0.7499 | likely_pathogenic | 0.7403 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.759 | deleterious | N | 0.521204311 | None | None | N |
| K/P | 0.9586 | likely_pathogenic | 0.9527 | pathogenic | 0.349 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| K/Q | 0.2695 | likely_benign | 0.2665 | benign | 0.06 | Stabilizing | 1.0 | D | 0.749 | deleterious | D | 0.572314542 | None | None | N |
| K/R | 0.1151 | likely_benign | 0.1171 | benign | -0.051 | Destabilizing | 0.999 | D | 0.65 | neutral | D | 0.543497622 | None | None | N |
| K/S | 0.7339 | likely_pathogenic | 0.7329 | pathogenic | -0.327 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| K/T | 0.4594 | ambiguous | 0.4412 | ambiguous | -0.147 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.549123865 | None | None | N |
| K/V | 0.4892 | ambiguous | 0.5181 | ambiguous | 0.349 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| K/W | 0.9223 | likely_pathogenic | 0.9309 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/Y | 0.8212 | likely_pathogenic | 0.8376 | pathogenic | 0.196 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | 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.