Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9904 | 29935;29936;29937 | chr2:178704762;178704761;178704760 | chr2:179569489;179569488;179569487 |
| N2AB | 9587 | 28984;28985;28986 | chr2:178704762;178704761;178704760 | chr2:179569489;179569488;179569487 |
| N2A | 8660 | 26203;26204;26205 | chr2:178704762;178704761;178704760 | chr2:179569489;179569488;179569487 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs2075586550  |
None | 0.896 | None | 0.507 | 0.344 | 0.284150004643 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| K/N | rs2075586550 |
None | 0.896 | None | 0.507 | 0.344 | 0.284150004643 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| K/Q | None | None | 0.968 | None | 0.55 | 0.221 | 0.296329037015 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| K/R | rs1268665035 |
None | 0.026 | None | 0.165 | 0.103 | 0.3571064206 | gnomAD-4.0.0 | 1.60131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43753E-05 | 0 |
| K/T | None | None | 0.811 | None | 0.55 | 0.255 | 0.360565625551 | gnomAD-4.0.0 | 1.60131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86354E-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 | 0.8154 | likely_pathogenic | 0.7383 | pathogenic | -0.568 | Destabilizing | 0.851 | D | 0.564 | neutral | None | None | None | None | N |
| K/C | 0.9358 | likely_pathogenic | 0.9254 | pathogenic | -0.504 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| K/D | 0.9131 | likely_pathogenic | 0.86 | pathogenic | -0.3 | Destabilizing | 0.976 | D | 0.552 | neutral | None | None | None | None | N |
| K/E | 0.4963 | ambiguous | 0.3487 | ambiguous | -0.158 | Destabilizing | 0.896 | D | 0.546 | neutral | None | None | None | None | N |
| K/F | 0.9867 | likely_pathogenic | 0.9795 | pathogenic | -0.005 | Destabilizing | 0.996 | D | 0.659 | neutral | None | None | None | None | N |
| K/G | 0.8502 | likely_pathogenic | 0.7943 | pathogenic | -0.974 | Destabilizing | 0.919 | D | 0.529 | neutral | None | None | None | None | N |
| K/H | 0.5598 | ambiguous | 0.5399 | ambiguous | -1.267 | Destabilizing | 0.997 | D | 0.63 | neutral | None | None | None | None | N |
| K/I | 0.9167 | likely_pathogenic | 0.8697 | pathogenic | 0.508 | Stabilizing | 0.988 | D | 0.661 | neutral | None | None | None | None | N |
| K/L | 0.8834 | likely_pathogenic | 0.8409 | pathogenic | 0.508 | Stabilizing | 0.919 | D | 0.513 | neutral | None | None | None | None | N |
| K/M | 0.7846 | likely_pathogenic | 0.7027 | pathogenic | 0.297 | Stabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| K/N | 0.7723 | likely_pathogenic | 0.6798 | pathogenic | -0.67 | Destabilizing | 0.896 | D | 0.507 | neutral | None | None | None | None | N |
| K/P | 0.9938 | likely_pathogenic | 0.9876 | pathogenic | 0.18 | Stabilizing | 0.988 | D | 0.631 | neutral | None | None | None | None | N |
| K/Q | 0.2923 | likely_benign | 0.2405 | benign | -0.627 | Destabilizing | 0.968 | D | 0.55 | neutral | None | None | None | None | N |
| K/R | 0.0998 | likely_benign | 0.1072 | benign | -0.82 | Destabilizing | 0.026 | N | 0.165 | neutral | None | None | None | None | N |
| K/S | 0.7918 | likely_pathogenic | 0.7077 | pathogenic | -1.244 | Destabilizing | 0.507 | D | 0.225 | neutral | None | None | None | None | N |
| K/T | 0.5561 | ambiguous | 0.4529 | ambiguous | -0.891 | Destabilizing | 0.811 | D | 0.55 | neutral | None | None | None | None | N |
| K/V | 0.8767 | likely_pathogenic | 0.8349 | pathogenic | 0.18 | Stabilizing | 0.988 | D | 0.563 | neutral | None | None | None | None | N |
| K/W | 0.9673 | likely_pathogenic | 0.9542 | pathogenic | 0.058 | Stabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| K/Y | 0.9472 | likely_pathogenic | 0.9284 | pathogenic | 0.313 | Stabilizing | 0.996 | D | 0.661 | 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.