Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23670 | 71233;71234;71235 | chr2:178575124;178575123;178575122 | chr2:179439851;179439850;179439849 |
| N2AB | 22029 | 66310;66311;66312 | chr2:178575124;178575123;178575122 | chr2:179439851;179439850;179439849 |
| N2A | 21102 | 63529;63530;63531 | chr2:178575124;178575123;178575122 | chr2:179439851;179439850;179439849 |
| N2B | 14605 | 44038;44039;44040 | chr2:178575124;178575123;178575122 | chr2:179439851;179439850;179439849 |
| Novex-1 | 14730 | 44413;44414;44415 | chr2:178575124;178575123;178575122 | chr2:179439851;179439850;179439849 |
| Novex-2 | 14797 | 44614;44615;44616 | chr2:178575124;178575123;178575122 | chr2:179439851;179439850;179439849 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.977 | N | 0.504 | 0.206 | 0.117506650769 | gnomAD-4.0.0 | 6.84568E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99729E-07 | 0 | 0 |
| G/R | rs1709584700  |
None | 0.993 | N | 0.712 | 0.406 | 0.472504041403 | gnomAD-4.0.0 | 1.59328E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02737E-05 |
| G/V | None | None | 0.997 | N | 0.737 | 0.291 | 0.519783508757 | gnomAD-4.0.0 | 6.84568E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99729E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1267 | likely_benign | 0.1647 | benign | -0.588 | Destabilizing | 0.977 | D | 0.504 | neutral | N | 0.446628985 | None | None | N |
| G/C | 0.2503 | likely_benign | 0.2811 | benign | -0.747 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/D | 0.1091 | likely_benign | 0.1385 | benign | -0.984 | Destabilizing | 0.966 | D | 0.579 | neutral | None | None | None | None | N |
| G/E | 0.1327 | likely_benign | 0.1707 | benign | -1.044 | Destabilizing | 0.117 | N | 0.415 | neutral | N | 0.414612567 | None | None | N |
| G/F | 0.5958 | likely_pathogenic | 0.691 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/H | 0.3502 | ambiguous | 0.4273 | ambiguous | -1.243 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| G/I | 0.3679 | ambiguous | 0.4836 | ambiguous | -0.226 | Destabilizing | 0.998 | D | 0.764 | deleterious | None | None | None | None | N |
| G/K | 0.3037 | likely_benign | 0.3709 | ambiguous | -1.192 | Destabilizing | 0.99 | D | 0.656 | neutral | None | None | None | None | N |
| G/L | 0.4056 | ambiguous | 0.5056 | ambiguous | -0.226 | Destabilizing | 0.995 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/M | 0.4223 | ambiguous | 0.5181 | ambiguous | -0.209 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/N | 0.1501 | likely_benign | 0.1925 | benign | -0.822 | Destabilizing | 0.995 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/P | 0.8171 | likely_pathogenic | 0.8798 | pathogenic | -0.305 | Destabilizing | 0.998 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/Q | 0.2585 | likely_benign | 0.3134 | benign | -0.988 | Destabilizing | 0.99 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/R | 0.2796 | likely_benign | 0.335 | benign | -0.885 | Destabilizing | 0.993 | D | 0.712 | prob.delet. | N | 0.511179109 | None | None | N |
| G/S | 0.1145 | likely_benign | 0.1381 | benign | -1.061 | Destabilizing | 0.983 | D | 0.559 | neutral | None | None | None | None | N |
| G/T | 0.2123 | likely_benign | 0.2797 | benign | -1.04 | Destabilizing | 0.995 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/V | 0.2488 | likely_benign | 0.3325 | benign | -0.305 | Destabilizing | 0.997 | D | 0.737 | prob.delet. | N | 0.48691817 | None | None | N |
| G/W | 0.4287 | ambiguous | 0.4926 | ambiguous | -1.304 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/Y | 0.3784 | ambiguous | 0.4675 | ambiguous | -0.872 | Destabilizing | 1.0 | D | 0.756 | deleterious | 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.