Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18705 | 56338;56339;56340 | chr2:178599788;178599787;178599786 | chr2:179464515;179464514;179464513 |
| N2AB | 17064 | 51415;51416;51417 | chr2:178599788;178599787;178599786 | chr2:179464515;179464514;179464513 |
| N2A | 16137 | 48634;48635;48636 | chr2:178599788;178599787;178599786 | chr2:179464515;179464514;179464513 |
| N2B | 9640 | 29143;29144;29145 | chr2:178599788;178599787;178599786 | chr2:179464515;179464514;179464513 |
| Novex-1 | 9765 | 29518;29519;29520 | chr2:178599788;178599787;178599786 | chr2:179464515;179464514;179464513 |
| Novex-2 | 9832 | 29719;29720;29721 | chr2:178599788;178599787;178599786 | chr2:179464515;179464514;179464513 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs1297839947  |
-0.337 | 0.982 | N | 0.611 | 0.172 | 0.612178117122 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.31E-05 | None | 0 | 0 | 0 |
| V/M | rs1297839947 |
-0.337 | 0.982 | N | 0.611 | 0.172 | 0.612178117122 | gnomAD-4.0.0 | 5.48359E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40201E-06 | 2.3334E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1353 | likely_benign | 0.1436 | benign | -1.334 | Destabilizing | 0.939 | D | 0.478 | neutral | N | 0.483244012 | None | None | I |
| V/C | 0.6862 | likely_pathogenic | 0.6937 | pathogenic | -0.782 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | I |
| V/D | 0.2964 | likely_benign | 0.294 | benign | -1.22 | Destabilizing | 0.993 | D | 0.726 | prob.delet. | None | None | None | None | I |
| V/E | 0.1879 | likely_benign | 0.1924 | benign | -1.263 | Destabilizing | 0.982 | D | 0.639 | neutral | N | 0.43437263 | None | None | I |
| V/F | 0.1959 | likely_benign | 0.1819 | benign | -1.172 | Destabilizing | 0.986 | D | 0.708 | prob.delet. | None | None | None | None | I |
| V/G | 0.2521 | likely_benign | 0.2489 | benign | -1.612 | Destabilizing | 0.991 | D | 0.675 | prob.neutral | N | 0.48807264 | None | None | I |
| V/H | 0.4522 | ambiguous | 0.446 | ambiguous | -1.18 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | I |
| V/I | 0.0719 | likely_benign | 0.0748 | benign | -0.687 | Destabilizing | 0.06 | N | 0.422 | neutral | None | None | None | None | I |
| V/K | 0.2374 | likely_benign | 0.2394 | benign | -1.149 | Destabilizing | 0.386 | N | 0.479 | neutral | None | None | None | None | I |
| V/L | 0.1702 | likely_benign | 0.1748 | benign | -0.687 | Destabilizing | 0.76 | D | 0.453 | neutral | N | 0.476838115 | None | None | I |
| V/M | 0.125 | likely_benign | 0.1294 | benign | -0.417 | Destabilizing | 0.982 | D | 0.611 | neutral | N | 0.50069641 | None | None | I |
| V/N | 0.2168 | likely_benign | 0.2359 | benign | -0.823 | Destabilizing | 0.993 | D | 0.747 | deleterious | None | None | None | None | I |
| V/P | 0.5103 | ambiguous | 0.5404 | ambiguous | -0.868 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | None | I |
| V/Q | 0.2464 | likely_benign | 0.2531 | benign | -1.046 | Destabilizing | 0.986 | D | 0.723 | prob.delet. | None | None | None | None | I |
| V/R | 0.2682 | likely_benign | 0.249 | benign | -0.565 | Destabilizing | 0.973 | D | 0.724 | prob.delet. | None | None | None | None | I |
| V/S | 0.172 | likely_benign | 0.1794 | benign | -1.274 | Destabilizing | 0.986 | D | 0.639 | neutral | None | None | None | None | I |
| V/T | 0.105 | likely_benign | 0.1148 | benign | -1.212 | Destabilizing | 0.953 | D | 0.523 | neutral | None | None | None | None | I |
| V/W | 0.8236 | likely_pathogenic | 0.8007 | pathogenic | -1.325 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | I |
| V/Y | 0.5461 | ambiguous | 0.5194 | ambiguous | -1.055 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | 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.