Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35005 | 105238;105239;105240 | chr2:178531602;178531601;178531600 | chr2:179396329;179396328;179396327 |
| N2AB | 33364 | 100315;100316;100317 | chr2:178531602;178531601;178531600 | chr2:179396329;179396328;179396327 |
| N2A | 32437 | 97534;97535;97536 | chr2:178531602;178531601;178531600 | chr2:179396329;179396328;179396327 |
| N2B | 25940 | 78043;78044;78045 | chr2:178531602;178531601;178531600 | chr2:179396329;179396328;179396327 |
| Novex-1 | 26065 | 78418;78419;78420 | chr2:178531602;178531601;178531600 | chr2:179396329;179396328;179396327 |
| Novex-2 | 26132 | 78619;78620;78621 | chr2:178531602;178531601;178531600 | chr2:179396329;179396328;179396327 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | rs1405155158  |
0.841 | 0.024 | N | 0.345 | 0.247 | 0.430010490656 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/L | rs1405155158 |
0.841 | 0.024 | N | 0.345 | 0.247 | 0.430010490656 | gnomAD-4.0.0 | 1.5909E-06 | None | None | None | None | N | None | 5.65227E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs116876353 |
0.777 | 0.106 | N | 0.181 | 0.132 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs116876353 |
0.777 | 0.106 | N | 0.181 | 0.132 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| H/Y | rs116876353 |
0.777 | 0.106 | N | 0.181 | 0.132 | None | gnomAD-4.0.0 | 6.56564E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2238 | likely_benign | 0.2463 | benign | 0.245 | Stabilizing | 0.016 | N | 0.282 | neutral | None | None | None | None | N |
| H/C | 0.1672 | likely_benign | 0.1868 | benign | 0.878 | Stabilizing | 0.864 | D | 0.346 | neutral | None | None | None | None | N |
| H/D | 0.1446 | likely_benign | 0.1658 | benign | 0.233 | Stabilizing | 0.012 | N | 0.317 | neutral | N | 0.425331859 | None | None | N |
| H/E | 0.1838 | likely_benign | 0.2054 | benign | 0.24 | Stabilizing | 0.007 | N | 0.167 | neutral | None | None | None | None | N |
| H/F | 0.3221 | likely_benign | 0.3809 | ambiguous | 0.401 | Stabilizing | 0.628 | D | 0.405 | neutral | None | None | None | None | N |
| H/G | 0.2171 | likely_benign | 0.2577 | benign | -0.018 | Destabilizing | 0.016 | N | 0.289 | neutral | None | None | None | None | N |
| H/I | 0.3362 | likely_benign | 0.3787 | ambiguous | 0.905 | Stabilizing | 0.356 | N | 0.414 | neutral | None | None | None | None | N |
| H/K | 0.1775 | likely_benign | 0.193 | benign | 0.389 | Stabilizing | 0.016 | N | 0.29 | neutral | None | None | None | None | N |
| H/L | 0.1208 | likely_benign | 0.1329 | benign | 0.905 | Stabilizing | 0.024 | N | 0.345 | neutral | N | 0.430316392 | None | None | N |
| H/M | 0.4036 | ambiguous | 0.434 | ambiguous | 0.91 | Stabilizing | 0.356 | N | 0.349 | neutral | None | None | None | None | N |
| H/N | 0.0797 | likely_benign | 0.082 | benign | 0.662 | Stabilizing | None | N | 0.091 | neutral | N | 0.438261084 | None | None | N |
| H/P | 0.351 | ambiguous | 0.3842 | ambiguous | 0.711 | Stabilizing | 0.106 | N | 0.363 | neutral | N | 0.482745367 | None | None | N |
| H/Q | 0.0976 | likely_benign | 0.1075 | benign | 0.677 | Stabilizing | None | N | 0.097 | neutral | N | 0.398606618 | None | None | N |
| H/R | 0.0868 | likely_benign | 0.0995 | benign | 0.028 | Stabilizing | 0.012 | N | 0.177 | neutral | N | 0.41059448 | None | None | N |
| H/S | 0.1481 | likely_benign | 0.1612 | benign | 0.628 | Stabilizing | 0.016 | N | 0.29 | neutral | None | None | None | None | N |
| H/T | 0.1938 | likely_benign | 0.2131 | benign | 0.721 | Stabilizing | 0.031 | N | 0.318 | neutral | None | None | None | None | N |
| H/V | 0.2566 | likely_benign | 0.2855 | benign | 0.711 | Stabilizing | 0.072 | N | 0.367 | neutral | None | None | None | None | N |
| H/W | 0.4633 | ambiguous | 0.5274 | ambiguous | 0.305 | Stabilizing | 0.864 | D | 0.341 | neutral | None | None | None | None | N |
| H/Y | 0.1315 | likely_benign | 0.1435 | benign | 0.784 | Stabilizing | 0.106 | N | 0.181 | neutral | N | 0.425102573 | 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.