Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18073 | 54442;54443;54444 | chr2:178604872;178604871;178604870 | chr2:179469599;179469598;179469597 |
| N2AB | 16432 | 49519;49520;49521 | chr2:178604872;178604871;178604870 | chr2:179469599;179469598;179469597 |
| N2A | 15505 | 46738;46739;46740 | chr2:178604872;178604871;178604870 | chr2:179469599;179469598;179469597 |
| N2B | 9008 | 27247;27248;27249 | chr2:178604872;178604871;178604870 | chr2:179469599;179469598;179469597 |
| Novex-1 | 9133 | 27622;27623;27624 | chr2:178604872;178604871;178604870 | chr2:179469599;179469598;179469597 |
| Novex-2 | 9200 | 27823;27824;27825 | chr2:178604872;178604871;178604870 | chr2:179469599;179469598;179469597 |
| 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/S | None | None | 0.018 | N | 0.251 | 0.09 | 0.195762928549 | gnomAD-4.0.0 | 6.84976E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00122E-07 | 0 | 0 |
| A/V | None | None | 0.006 | N | 0.315 | 0.119 | 0.254244900254 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.3406 | ambiguous | 0.3769 | ambiguous | -0.869 | Destabilizing | 0.981 | D | 0.462 | neutral | None | None | None | None | N |
| A/D | 0.327 | likely_benign | 0.3717 | ambiguous | -0.311 | Destabilizing | 0.324 | N | 0.545 | neutral | N | 0.423896559 | None | None | N |
| A/E | 0.209 | likely_benign | 0.2419 | benign | -0.386 | Destabilizing | 0.241 | N | 0.466 | neutral | None | None | None | None | N |
| A/F | 0.2409 | likely_benign | 0.2938 | benign | -0.782 | Destabilizing | 0.818 | D | 0.611 | neutral | None | None | None | None | N |
| A/G | 0.1832 | likely_benign | 0.1901 | benign | -0.706 | Destabilizing | 0.324 | N | 0.451 | neutral | N | 0.45639298 | None | None | N |
| A/H | 0.3201 | likely_benign | 0.3627 | ambiguous | -0.771 | Destabilizing | 0.893 | D | 0.591 | neutral | None | None | None | None | N |
| A/I | 0.1355 | likely_benign | 0.1735 | benign | -0.206 | Destabilizing | 0.241 | N | 0.46 | neutral | None | None | None | None | N |
| A/K | 0.2887 | likely_benign | 0.3493 | ambiguous | -0.802 | Destabilizing | 0.241 | N | 0.441 | neutral | None | None | None | None | N |
| A/L | 0.1183 | likely_benign | 0.1369 | benign | -0.206 | Destabilizing | 0.116 | N | 0.448 | neutral | None | None | None | None | N |
| A/M | 0.1424 | likely_benign | 0.1641 | benign | -0.323 | Destabilizing | 0.818 | D | 0.521 | neutral | None | None | None | None | N |
| A/N | 0.2146 | likely_benign | 0.2403 | benign | -0.568 | Destabilizing | 0.69 | D | 0.576 | neutral | None | None | None | None | N |
| A/P | 0.8666 | likely_pathogenic | 0.8746 | pathogenic | -0.271 | Destabilizing | 0.773 | D | 0.505 | neutral | N | 0.505128289 | None | None | N |
| A/Q | 0.2063 | likely_benign | 0.2313 | benign | -0.723 | Destabilizing | 0.005 | N | 0.293 | neutral | None | None | None | None | N |
| A/R | 0.2655 | likely_benign | 0.312 | benign | -0.485 | Destabilizing | 0.527 | D | 0.503 | neutral | None | None | None | None | N |
| A/S | 0.096 | likely_benign | 0.0984 | benign | -0.925 | Destabilizing | 0.018 | N | 0.251 | neutral | N | 0.415023573 | None | None | N |
| A/T | 0.0718 | likely_benign | 0.0774 | benign | -0.894 | Destabilizing | 0.003 | N | 0.142 | neutral | N | 0.394629658 | None | None | N |
| A/V | 0.0801 | likely_benign | 0.0953 | benign | -0.271 | Destabilizing | 0.006 | N | 0.315 | neutral | N | 0.373987814 | None | None | N |
| A/W | 0.6543 | likely_pathogenic | 0.7007 | pathogenic | -1.029 | Destabilizing | 0.981 | D | 0.69 | prob.neutral | None | None | None | None | N |
| A/Y | 0.3596 | ambiguous | 0.4228 | ambiguous | -0.628 | Destabilizing | 0.818 | D | 0.611 | 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.