Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34364 | 103315;103316;103317 | chr2:178533525;178533524;178533523 | chr2:179398252;179398251;179398250 |
| N2AB | 32723 | 98392;98393;98394 | chr2:178533525;178533524;178533523 | chr2:179398252;179398251;179398250 |
| N2A | 31796 | 95611;95612;95613 | chr2:178533525;178533524;178533523 | chr2:179398252;179398251;179398250 |
| N2B | 25299 | 76120;76121;76122 | chr2:178533525;178533524;178533523 | chr2:179398252;179398251;179398250 |
| Novex-1 | 25424 | 76495;76496;76497 | chr2:178533525;178533524;178533523 | chr2:179398252;179398251;179398250 |
| Novex-2 | 25491 | 76696;76697;76698 | chr2:178533525;178533524;178533523 | chr2:179398252;179398251;179398250 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/T | rs1057273567  |
0.421 | 0.801 | N | 0.353 | 0.472 | 0.753800451849 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-06 | 0 |
| M/T | rs1057273567 |
0.421 | 0.801 | N | 0.353 | 0.472 | 0.753800451849 | gnomAD-4.0.0 | 4.10552E-06 | None | None | None | None | I | None | 0 | 2.23644E-05 | None | 0 | 0 | None | 0 | 0 | 2.6986E-06 | 0 | 3.3129E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.8392 | likely_pathogenic | 0.7174 | pathogenic | -0.693 | Destabilizing | 0.688 | D | 0.362 | neutral | None | None | None | None | I |
| M/C | 0.9417 | likely_pathogenic | 0.9107 | pathogenic | -0.597 | Destabilizing | 0.998 | D | 0.389 | neutral | None | None | None | None | I |
| M/D | 0.9935 | likely_pathogenic | 0.9833 | pathogenic | 0.43 | Stabilizing | 0.949 | D | 0.421 | neutral | None | None | None | None | I |
| M/E | 0.9674 | likely_pathogenic | 0.919 | pathogenic | 0.423 | Stabilizing | 0.728 | D | 0.381 | neutral | None | None | None | None | I |
| M/F | 0.7099 | likely_pathogenic | 0.6152 | pathogenic | -0.057 | Destabilizing | 0.991 | D | 0.397 | neutral | None | None | None | None | I |
| M/G | 0.9589 | likely_pathogenic | 0.9169 | pathogenic | -0.926 | Destabilizing | 0.842 | D | 0.411 | neutral | None | None | None | None | I |
| M/H | 0.9354 | likely_pathogenic | 0.8692 | pathogenic | 0.041 | Stabilizing | 0.998 | D | 0.415 | neutral | None | None | None | None | I |
| M/I | 0.8654 | likely_pathogenic | 0.7373 | pathogenic | -0.147 | Destabilizing | 0.891 | D | 0.382 | neutral | N | 0.447998075 | None | None | I |
| M/K | 0.8607 | likely_pathogenic | 0.7071 | pathogenic | 0.288 | Stabilizing | 0.012 | N | 0.245 | neutral | N | 0.389197701 | None | None | I |
| M/L | 0.3396 | likely_benign | 0.2532 | benign | -0.147 | Destabilizing | 0.421 | N | 0.239 | neutral | N | 0.446304564 | None | None | I |
| M/N | 0.9417 | likely_pathogenic | 0.8803 | pathogenic | 0.343 | Stabilizing | 0.949 | D | 0.414 | neutral | None | None | None | None | I |
| M/P | 0.9956 | likely_pathogenic | 0.9881 | pathogenic | -0.3 | Destabilizing | 0.974 | D | 0.427 | neutral | None | None | None | None | I |
| M/Q | 0.7626 | likely_pathogenic | 0.6175 | pathogenic | 0.267 | Stabilizing | 0.842 | D | 0.374 | neutral | None | None | None | None | I |
| M/R | 0.83 | likely_pathogenic | 0.6601 | pathogenic | 0.727 | Stabilizing | 0.669 | D | 0.385 | neutral | N | 0.424619783 | None | None | I |
| M/S | 0.8491 | likely_pathogenic | 0.754 | pathogenic | -0.203 | Destabilizing | 0.842 | D | 0.372 | neutral | None | None | None | None | I |
| M/T | 0.8163 | likely_pathogenic | 0.6564 | pathogenic | -0.094 | Destabilizing | 0.801 | D | 0.353 | neutral | N | 0.430257676 | None | None | I |
| M/V | 0.2832 | likely_benign | 0.1918 | benign | -0.3 | Destabilizing | 0.771 | D | 0.407 | neutral | N | 0.423387632 | None | None | I |
| M/W | 0.9749 | likely_pathogenic | 0.9452 | pathogenic | -0.036 | Destabilizing | 0.998 | D | 0.408 | neutral | None | None | None | None | I |
| M/Y | 0.9269 | likely_pathogenic | 0.8734 | pathogenic | 0.072 | Stabilizing | 0.991 | D | 0.401 | neutral | None | None | None | None | I |
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.