Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15700 | 47323;47324;47325 | chr2:178618360;178618359;178618358 | chr2:179483087;179483086;179483085 |
| N2AB | 14059 | 42400;42401;42402 | chr2:178618360;178618359;178618358 | chr2:179483087;179483086;179483085 |
| N2A | 13132 | 39619;39620;39621 | chr2:178618360;178618359;178618358 | chr2:179483087;179483086;179483085 |
| N2B | 6635 | 20128;20129;20130 | chr2:178618360;178618359;178618358 | chr2:179483087;179483086;179483085 |
| Novex-1 | 6760 | 20503;20504;20505 | chr2:178618360;178618359;178618358 | chr2:179483087;179483086;179483085 |
| Novex-2 | 6827 | 20704;20705;20706 | chr2:178618360;178618359;178618358 | chr2:179483087;179483086;179483085 |
| 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/E | rs2057727269  |
None | 0.41 | N | 0.473 | 0.227 | 0.257786959452 | 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/N | rs752235858 |
-0.016 | 0.83 | N | 0.565 | 0.169 | 0.199424873507 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 8.72E-05 | None | 0 | 1.12473E-04 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs752235858 |
-0.016 | 0.83 | N | 0.565 | 0.169 | 0.199424873507 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95008E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs752235858 |
-0.016 | 0.83 | N | 0.565 | 0.169 | 0.199424873507 | gnomAD-4.0.0 | 3.72101E-06 | None | None | None | None | N | None | 0 | 5.01119E-05 | None | 0 | 6.71622E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | None | None | 0.01 | N | 0.289 | 0.135 | 0.272639205421 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.8167 | likely_pathogenic | 0.8121 | pathogenic | 0.021 | Stabilizing | 0.648 | D | 0.502 | neutral | None | None | None | None | N |
| K/C | 0.9375 | likely_pathogenic | 0.9112 | pathogenic | -0.309 | Destabilizing | 0.993 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/D | 0.9336 | likely_pathogenic | 0.9274 | pathogenic | -0.1 | Destabilizing | 0.866 | D | 0.582 | neutral | None | None | None | None | N |
| K/E | 0.7329 | likely_pathogenic | 0.7326 | pathogenic | -0.08 | Destabilizing | 0.41 | N | 0.473 | neutral | N | 0.472554626 | None | None | N |
| K/F | 0.9704 | likely_pathogenic | 0.9632 | pathogenic | -0.144 | Destabilizing | 0.98 | D | 0.646 | neutral | None | None | None | None | N |
| K/G | 0.8312 | likely_pathogenic | 0.8012 | pathogenic | -0.178 | Destabilizing | 0.866 | D | 0.477 | neutral | None | None | None | None | N |
| K/H | 0.6167 | likely_pathogenic | 0.5804 | pathogenic | -0.321 | Destabilizing | 0.98 | D | 0.581 | neutral | None | None | None | None | N |
| K/I | 0.8647 | likely_pathogenic | 0.8665 | pathogenic | 0.471 | Stabilizing | 0.929 | D | 0.658 | neutral | None | None | None | None | N |
| K/L | 0.7824 | likely_pathogenic | 0.7766 | pathogenic | 0.471 | Stabilizing | 0.866 | D | 0.477 | neutral | None | None | None | None | N |
| K/M | 0.7451 | likely_pathogenic | 0.7616 | pathogenic | 0.049 | Stabilizing | 0.991 | D | 0.591 | neutral | D | 0.573263782 | None | None | N |
| K/N | 0.866 | likely_pathogenic | 0.8482 | pathogenic | 0.079 | Stabilizing | 0.83 | D | 0.565 | neutral | N | 0.471555003 | None | None | N |
| K/P | 0.9438 | likely_pathogenic | 0.9358 | pathogenic | 0.348 | Stabilizing | 0.929 | D | 0.559 | neutral | None | None | None | None | N |
| K/Q | 0.3666 | ambiguous | 0.3622 | ambiguous | -0.031 | Destabilizing | 0.83 | D | 0.557 | neutral | N | 0.503538524 | None | None | N |
| K/R | 0.1085 | likely_benign | 0.1058 | benign | -0.063 | Destabilizing | 0.01 | N | 0.289 | neutral | N | 0.467459129 | None | None | N |
| K/S | 0.8354 | likely_pathogenic | 0.8182 | pathogenic | -0.33 | Destabilizing | 0.648 | D | 0.501 | neutral | None | None | None | None | N |
| K/T | 0.6167 | likely_pathogenic | 0.6139 | pathogenic | -0.165 | Destabilizing | 0.83 | D | 0.549 | neutral | N | 0.478756224 | None | None | N |
| K/V | 0.8322 | likely_pathogenic | 0.8284 | pathogenic | 0.348 | Stabilizing | 0.866 | D | 0.591 | neutral | None | None | None | None | N |
| K/W | 0.952 | likely_pathogenic | 0.9435 | pathogenic | -0.214 | Destabilizing | 0.993 | D | 0.706 | prob.neutral | None | None | None | None | N |
| K/Y | 0.9243 | likely_pathogenic | 0.9108 | pathogenic | 0.131 | Stabilizing | 0.929 | D | 0.611 | 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.