Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16144 | 48655;48656;48657 | chr2:178615671;178615670;178615669 | chr2:179480398;179480397;179480396 |
| N2AB | 14503 | 43732;43733;43734 | chr2:178615671;178615670;178615669 | chr2:179480398;179480397;179480396 |
| N2A | 13576 | 40951;40952;40953 | chr2:178615671;178615670;178615669 | chr2:179480398;179480397;179480396 |
| N2B | 7079 | 21460;21461;21462 | chr2:178615671;178615670;178615669 | chr2:179480398;179480397;179480396 |
| Novex-1 | 7204 | 21835;21836;21837 | chr2:178615671;178615670;178615669 | chr2:179480398;179480397;179480396 |
| Novex-2 | 7271 | 22036;22037;22038 | chr2:178615671;178615670;178615669 | chr2:179480398;179480397;179480396 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs879133118  |
0.311 | 0.995 | N | 0.626 | 0.355 | 0.324161360171 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 2.59E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66058E-04 |
| D/A | rs879133118 |
0.311 | 0.995 | N | 0.626 | 0.355 | 0.324161360171 | gnomAD-3.1.2 | 5.27E-05 | None | None | None | None | N | None | 1.93293E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/A | rs879133118 |
0.311 | 0.995 | N | 0.626 | 0.355 | 0.324161360171 | gnomAD-4.0.0 | 7.44259E-06 | None | None | None | None | N | None | 1.4711E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60298E-05 |
| D/E | rs776643336 |
None | 0.429 | N | 0.315 | 0.052 | 0.219573609325 | gnomAD-4.0.0 | 6.84702E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0005E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1214 | likely_benign | 0.1536 | benign | -0.19 | Destabilizing | 0.995 | D | 0.626 | neutral | N | 0.466285045 | None | None | N |
| D/C | 0.47 | ambiguous | 0.5596 | ambiguous | -0.471 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/E | 0.1161 | likely_benign | 0.1271 | benign | -0.246 | Destabilizing | 0.429 | N | 0.315 | neutral | N | 0.451948255 | None | None | N |
| D/F | 0.515 | ambiguous | 0.6063 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/G | 0.1193 | likely_benign | 0.1514 | benign | -0.372 | Destabilizing | 0.991 | D | 0.753 | deleterious | N | 0.462541667 | None | None | N |
| D/H | 0.2374 | likely_benign | 0.3051 | benign | 0.552 | Stabilizing | 1.0 | D | 0.778 | deleterious | D | 0.55218529 | None | None | N |
| D/I | 0.309 | likely_benign | 0.3873 | ambiguous | 0.245 | Stabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| D/K | 0.2447 | likely_benign | 0.2906 | benign | 0.063 | Stabilizing | 0.996 | D | 0.75 | deleterious | None | None | None | None | N |
| D/L | 0.2708 | likely_benign | 0.3237 | benign | 0.245 | Stabilizing | 0.998 | D | 0.698 | prob.delet. | None | None | None | None | N |
| D/M | 0.4729 | ambiguous | 0.5443 | ambiguous | -0.032 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/N | 0.1032 | likely_benign | 0.1225 | benign | -0.289 | Destabilizing | 0.998 | D | 0.791 | deleterious | N | 0.508060519 | None | None | N |
| D/P | 0.3613 | ambiguous | 0.4032 | ambiguous | 0.12 | Stabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| D/Q | 0.2452 | likely_benign | 0.2894 | benign | -0.231 | Destabilizing | 0.996 | D | 0.822 | deleterious | None | None | None | None | N |
| D/R | 0.2876 | likely_benign | 0.3458 | ambiguous | 0.462 | Stabilizing | 0.996 | D | 0.692 | prob.delet. | None | None | None | None | N |
| D/S | 0.102 | likely_benign | 0.1186 | benign | -0.426 | Destabilizing | 0.987 | D | 0.733 | deleterious | None | None | None | None | N |
| D/T | 0.1765 | likely_benign | 0.2077 | benign | -0.271 | Destabilizing | 0.998 | D | 0.81 | deleterious | None | None | None | None | N |
| D/V | 0.1685 | likely_benign | 0.2158 | benign | 0.12 | Stabilizing | 0.998 | D | 0.702 | prob.delet. | N | 0.462302929 | None | None | N |
| D/W | 0.7885 | likely_pathogenic | 0.8285 | pathogenic | 0.144 | Stabilizing | 1.0 | D | 0.736 | deleterious | None | None | None | None | N |
| D/Y | 0.2068 | likely_benign | 0.2645 | benign | 0.246 | Stabilizing | 1.0 | D | 0.759 | deleterious | N | 0.507855868 | 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.