Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34267 | 103024;103025;103026 | chr2:178533816;178533815;178533814 | chr2:179398543;179398542;179398541 |
| N2AB | 32626 | 98101;98102;98103 | chr2:178533816;178533815;178533814 | chr2:179398543;179398542;179398541 |
| N2A | 31699 | 95320;95321;95322 | chr2:178533816;178533815;178533814 | chr2:179398543;179398542;179398541 |
| N2B | 25202 | 75829;75830;75831 | chr2:178533816;178533815;178533814 | chr2:179398543;179398542;179398541 |
| Novex-1 | 25327 | 76204;76205;76206 | chr2:178533816;178533815;178533814 | chr2:179398543;179398542;179398541 |
| Novex-2 | 25394 | 76405;76406;76407 | chr2:178533816;178533815;178533814 | chr2:179398543;179398542;179398541 |
| 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 | rs1690256257  |
None | 0.09 | N | 0.381 | 0.2 | None | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85775E-06 | 0 | 0 |
| K/M | rs879206062 |
-0.254 | 0.912 | N | 0.456 | 0.348 | 0.335414705075 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| K/M | rs879206062 |
-0.254 | 0.912 | N | 0.456 | 0.348 | 0.335414705075 | gnomAD-4.0.0 | 6.84167E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99429E-07 | 0 | 0 |
| K/R | rs879206062 |
None | None | N | 0.057 | 0.093 | None | gnomAD-4.0.0 | 2.0525E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69829E-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 | 0.7416 | likely_pathogenic | 0.8086 | pathogenic | -1.054 | Destabilizing | 0.116 | N | 0.372 | neutral | None | None | None | None | N |
| K/C | 0.7649 | likely_pathogenic | 0.851 | pathogenic | -0.913 | Destabilizing | 0.981 | D | 0.539 | neutral | None | None | None | None | N |
| K/D | 0.9391 | likely_pathogenic | 0.9586 | pathogenic | -0.42 | Destabilizing | 0.388 | N | 0.438 | neutral | None | None | None | None | N |
| K/E | 0.4734 | ambiguous | 0.5774 | pathogenic | -0.2 | Destabilizing | 0.09 | N | 0.381 | neutral | N | 0.459753864 | None | None | N |
| K/F | 0.9261 | likely_pathogenic | 0.9563 | pathogenic | -0.45 | Destabilizing | 0.818 | D | 0.565 | neutral | None | None | None | None | N |
| K/G | 0.8851 | likely_pathogenic | 0.933 | pathogenic | -1.506 | Destabilizing | 0.207 | N | 0.467 | neutral | None | None | None | None | N |
| K/H | 0.4171 | ambiguous | 0.4915 | ambiguous | -1.591 | Destabilizing | 0.818 | D | 0.461 | neutral | None | None | None | None | N |
| K/I | 0.6151 | likely_pathogenic | 0.747 | pathogenic | 0.182 | Stabilizing | 0.818 | D | 0.577 | neutral | None | None | None | None | N |
| K/L | 0.6544 | likely_pathogenic | 0.75 | pathogenic | 0.182 | Stabilizing | 0.388 | N | 0.482 | neutral | None | None | None | None | N |
| K/M | 0.4687 | ambiguous | 0.5841 | pathogenic | -0.051 | Destabilizing | 0.912 | D | 0.456 | neutral | N | 0.445323129 | None | None | N |
| K/N | 0.8351 | likely_pathogenic | 0.8986 | pathogenic | -0.885 | Destabilizing | 0.324 | N | 0.351 | neutral | N | 0.503293998 | None | None | N |
| K/P | 0.9888 | likely_pathogenic | 0.9944 | pathogenic | -0.203 | Destabilizing | 0.818 | D | 0.497 | neutral | None | None | None | None | N |
| K/Q | 0.2207 | likely_benign | 0.2733 | benign | -0.724 | Destabilizing | 0.324 | N | 0.364 | neutral | N | 0.396203818 | None | None | N |
| K/R | 0.0876 | likely_benign | 0.1063 | benign | -0.644 | Destabilizing | None | N | 0.057 | neutral | N | 0.392144792 | None | None | N |
| K/S | 0.8333 | likely_pathogenic | 0.8953 | pathogenic | -1.613 | Destabilizing | 0.024 | N | 0.108 | neutral | None | None | None | None | N |
| K/T | 0.4345 | ambiguous | 0.5603 | ambiguous | -1.137 | Destabilizing | 0.193 | N | 0.468 | neutral | N | 0.382658517 | None | None | N |
| K/V | 0.5629 | ambiguous | 0.6741 | pathogenic | -0.203 | Destabilizing | 0.388 | N | 0.518 | neutral | None | None | None | None | N |
| K/W | 0.9054 | likely_pathogenic | 0.9456 | pathogenic | -0.324 | Destabilizing | 0.981 | D | 0.584 | neutral | None | None | None | None | N |
| K/Y | 0.7912 | likely_pathogenic | 0.8511 | pathogenic | -0.041 | Destabilizing | 0.818 | D | 0.531 | 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.