Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19057 | 57394;57395;57396 | chr2:178598001;178598000;178597999 | chr2:179462728;179462727;179462726 |
| N2AB | 17416 | 52471;52472;52473 | chr2:178598001;178598000;178597999 | chr2:179462728;179462727;179462726 |
| N2A | 16489 | 49690;49691;49692 | chr2:178598001;178598000;178597999 | chr2:179462728;179462727;179462726 |
| N2B | 9992 | 30199;30200;30201 | chr2:178598001;178598000;178597999 | chr2:179462728;179462727;179462726 |
| Novex-1 | 10117 | 30574;30575;30576 | chr2:178598001;178598000;178597999 | chr2:179462728;179462727;179462726 |
| Novex-2 | 10184 | 30775;30776;30777 | chr2:178598001;178598000;178597999 | chr2:179462728;179462727;179462726 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 0.669 | N | 0.437 | 0.125 | 0.191931220699 | gnomAD-4.0.0 | 1.36876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52232E-05 | None | 0 | 0 | 8.9963E-07 | 0 | 0 |
| A/V | rs1272197351  |
None | 0.801 | N | 0.466 | 0.177 | 0.388495093706 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2149 | likely_benign | 0.2208 | benign | -0.597 | Destabilizing | 0.037 | N | 0.374 | neutral | None | None | None | None | N |
| A/D | 0.2495 | likely_benign | 0.2524 | benign | -1.496 | Destabilizing | 0.949 | D | 0.443 | neutral | None | None | None | None | N |
| A/E | 0.2517 | likely_benign | 0.2525 | benign | -1.431 | Destabilizing | 0.934 | D | 0.457 | neutral | N | 0.421819046 | None | None | N |
| A/F | 0.2525 | likely_benign | 0.2652 | benign | -0.862 | Destabilizing | 0.991 | D | 0.463 | neutral | None | None | None | None | N |
| A/G | 0.0995 | likely_benign | 0.0835 | benign | -1.32 | Destabilizing | 0.002 | N | 0.113 | neutral | N | 0.424648708 | None | None | N |
| A/H | 0.3265 | likely_benign | 0.3274 | benign | -1.622 | Destabilizing | 0.998 | D | 0.442 | neutral | None | None | None | None | N |
| A/I | 0.1832 | likely_benign | 0.1939 | benign | -0.098 | Destabilizing | 0.949 | D | 0.481 | neutral | None | None | None | None | N |
| A/K | 0.3334 | likely_benign | 0.3175 | benign | -1.105 | Destabilizing | 0.842 | D | 0.457 | neutral | None | None | None | None | N |
| A/L | 0.16 | likely_benign | 0.1556 | benign | -0.098 | Destabilizing | 0.728 | D | 0.439 | neutral | None | None | None | None | N |
| A/M | 0.1796 | likely_benign | 0.1816 | benign | 0.023 | Stabilizing | 0.998 | D | 0.437 | neutral | None | None | None | None | N |
| A/N | 0.164 | likely_benign | 0.1604 | benign | -0.966 | Destabilizing | 0.949 | D | 0.462 | neutral | None | None | None | None | N |
| A/P | 0.7607 | likely_pathogenic | 0.7641 | pathogenic | -0.345 | Destabilizing | 0.966 | D | 0.482 | neutral | N | 0.480878666 | None | None | N |
| A/Q | 0.246 | likely_benign | 0.2336 | benign | -0.993 | Destabilizing | 0.974 | D | 0.495 | neutral | None | None | None | None | N |
| A/R | 0.3006 | likely_benign | 0.2941 | benign | -0.922 | Destabilizing | 0.949 | D | 0.475 | neutral | None | None | None | None | N |
| A/S | 0.0766 | likely_benign | 0.075 | benign | -1.355 | Destabilizing | 0.051 | N | 0.277 | neutral | N | 0.437825862 | None | None | N |
| A/T | 0.0719 | likely_benign | 0.0735 | benign | -1.19 | Destabilizing | 0.669 | D | 0.437 | neutral | N | 0.40580387 | None | None | N |
| A/V | 0.1045 | likely_benign | 0.1135 | benign | -0.345 | Destabilizing | 0.801 | D | 0.466 | neutral | N | 0.426571505 | None | None | N |
| A/W | 0.6433 | likely_pathogenic | 0.6671 | pathogenic | -1.434 | Destabilizing | 0.998 | D | 0.525 | neutral | None | None | None | None | N |
| A/Y | 0.3387 | likely_benign | 0.3485 | ambiguous | -0.931 | Destabilizing | 0.991 | D | 0.467 | 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.