Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34431 | 103516;103517;103518 | chr2:178533324;178533323;178533322 | chr2:179398051;179398050;179398049 |
| N2AB | 32790 | 98593;98594;98595 | chr2:178533324;178533323;178533322 | chr2:179398051;179398050;179398049 |
| N2A | 31863 | 95812;95813;95814 | chr2:178533324;178533323;178533322 | chr2:179398051;179398050;179398049 |
| N2B | 25366 | 76321;76322;76323 | chr2:178533324;178533323;178533322 | chr2:179398051;179398050;179398049 |
| Novex-1 | 25491 | 76696;76697;76698 | chr2:178533324;178533323;178533322 | chr2:179398051;179398050;179398049 |
| Novex-2 | 25558 | 76897;76898;76899 | chr2:178533324;178533323;178533322 | chr2:179398051;179398050;179398049 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/M | rs192001910  |
0.153 | 0.998 | N | 0.579 | 0.246 | None | gnomAD-2.1.1 | 6.45843E-04 | None | None | None | None | N | None | 1.65303E-04 | 7.63661E-04 | None | 1.73913E-03 | 0 | None | 0 | None | 4.01E-05 | 9.67556E-04 | 9.81217E-04 |
| T/M | rs192001910 |
0.153 | 0.998 | N | 0.579 | 0.246 | None | gnomAD-3.1.2 | 5.65232E-04 | None | None | None | None | N | None | 2.41418E-04 | 4.58355E-04 | 0 | 1.1534E-03 | 0 | None | 0 | 0 | 9.25953E-04 | 0 | 9.5511E-04 |
| T/M | rs192001910 |
0.153 | 0.998 | N | 0.579 | 0.246 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| T/M | rs192001910 |
0.153 | 0.998 | N | 0.579 | 0.246 | None | gnomAD-4.0.0 | 9.15868E-04 | None | None | None | None | N | None | 1.59953E-04 | 6.49892E-04 | None | 1.41873E-03 | 0 | None | 0 | 0 | 1.13065E-03 | 4.39145E-05 | 7.52193E-04 |
| T/R | rs192001910 |
None | 0.911 | N | 0.591 | 0.215 | 0.407632638399 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/R | rs192001910 |
None | 0.911 | N | 0.591 | 0.215 | 0.407632638399 | gnomAD-4.0.0 | 3.09856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39022E-06 | 0 | 1.60097E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1378 | likely_benign | 0.1061 | benign | -0.848 | Destabilizing | 0.022 | N | 0.104 | neutral | N | 0.394451592 | None | None | N |
| T/C | 0.6404 | likely_pathogenic | 0.5475 | ambiguous | -0.564 | Destabilizing | 0.991 | D | 0.574 | neutral | None | None | None | None | N |
| T/D | 0.7092 | likely_pathogenic | 0.5532 | ambiguous | -1.112 | Destabilizing | 0.842 | D | 0.61 | neutral | None | None | None | None | N |
| T/E | 0.5404 | ambiguous | 0.4544 | ambiguous | -1.044 | Destabilizing | 0.842 | D | 0.625 | neutral | None | None | None | None | N |
| T/F | 0.8078 | likely_pathogenic | 0.6534 | pathogenic | -0.678 | Destabilizing | 0.991 | D | 0.609 | neutral | None | None | None | None | N |
| T/G | 0.4309 | ambiguous | 0.3308 | benign | -1.182 | Destabilizing | 0.525 | D | 0.467 | neutral | None | None | None | None | N |
| T/H | 0.5881 | likely_pathogenic | 0.4438 | ambiguous | -1.513 | Destabilizing | 0.991 | D | 0.577 | neutral | None | None | None | None | N |
| T/I | 0.6683 | likely_pathogenic | 0.5584 | ambiguous | -0.023 | Destabilizing | 0.915 | D | 0.578 | neutral | None | None | None | None | N |
| T/K | 0.4596 | ambiguous | 0.3405 | ambiguous | -0.968 | Destabilizing | 0.911 | D | 0.617 | neutral | N | 0.492018211 | None | None | N |
| T/L | 0.4258 | ambiguous | 0.2933 | benign | -0.023 | Destabilizing | 0.688 | D | 0.581 | neutral | None | None | None | None | N |
| T/M | 0.2237 | likely_benign | 0.1689 | benign | 0.29 | Stabilizing | 0.998 | D | 0.579 | neutral | N | 0.500541694 | None | None | N |
| T/N | 0.317 | likely_benign | 0.2175 | benign | -1.192 | Destabilizing | 0.842 | D | 0.539 | neutral | None | None | None | None | N |
| T/P | 0.8451 | likely_pathogenic | 0.7228 | pathogenic | -0.265 | Destabilizing | 0.891 | D | 0.578 | neutral | N | 0.50153254 | None | None | N |
| T/Q | 0.4389 | ambiguous | 0.3521 | ambiguous | -1.228 | Destabilizing | 0.974 | D | 0.602 | neutral | None | None | None | None | N |
| T/R | 0.3469 | ambiguous | 0.253 | benign | -0.849 | Destabilizing | 0.911 | D | 0.591 | neutral | N | 0.504102074 | None | None | N |
| T/S | 0.1324 | likely_benign | 0.103 | benign | -1.347 | Destabilizing | 0.007 | N | 0.141 | neutral | N | 0.408842254 | None | None | N |
| T/V | 0.4798 | ambiguous | 0.3927 | ambiguous | -0.265 | Destabilizing | 0.688 | D | 0.559 | neutral | None | None | None | None | N |
| T/W | 0.942 | likely_pathogenic | 0.877 | pathogenic | -0.751 | Destabilizing | 0.998 | D | 0.59 | neutral | None | None | None | None | N |
| T/Y | 0.8068 | likely_pathogenic | 0.645 | pathogenic | -0.478 | Destabilizing | 0.991 | D | 0.601 | 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.