Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6522 | 19789;19790;19791 | chr2:178728260;178728259;178728258 | chr2:179592987;179592986;179592985 |
| N2AB | 6205 | 18838;18839;18840 | chr2:178728260;178728259;178728258 | chr2:179592987;179592986;179592985 |
| N2A | 5278 | 16057;16058;16059 | chr2:178728260;178728259;178728258 | chr2:179592987;179592986;179592985 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs780721181  |
-0.477 | 0.001 | N | 0.235 | 0.264 | 0.168933306366 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/P | rs780721181 |
-0.477 | 0.001 | N | 0.235 | 0.264 | 0.168933306366 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| S/Y | rs768370268 |
-0.601 | 0.272 | D | 0.414 | 0.257 | 0.580281640613 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/Y | rs768370268 |
-0.601 | 0.272 | D | 0.414 | 0.257 | 0.580281640613 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/Y | rs768370268 |
-0.601 | 0.272 | D | 0.414 | 0.257 | 0.580281640613 | gnomAD-4.0.0 | 1.85969E-06 | None | None | None | None | N | None | 1.33568E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6956E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0689 | likely_benign | 0.0735 | benign | -0.263 | Destabilizing | 0.019 | N | 0.164 | neutral | N | 0.517839376 | None | None | N |
| S/C | 0.1084 | likely_benign | 0.1179 | benign | -0.445 | Destabilizing | 0.851 | D | 0.345 | neutral | N | 0.507092402 | None | None | N |
| S/D | 0.1975 | likely_benign | 0.2322 | benign | 0.412 | Stabilizing | 0.22 | N | 0.202 | neutral | None | None | None | None | N |
| S/E | 0.2508 | likely_benign | 0.2948 | benign | 0.339 | Stabilizing | 0.22 | N | 0.193 | neutral | None | None | None | None | N |
| S/F | 0.1248 | likely_benign | 0.1357 | benign | -0.956 | Destabilizing | None | N | 0.233 | neutral | D | 0.533483619 | None | None | N |
| S/G | 0.0751 | likely_benign | 0.0778 | benign | -0.355 | Destabilizing | 0.104 | N | 0.221 | neutral | None | None | None | None | N |
| S/H | 0.185 | likely_benign | 0.1955 | benign | -0.692 | Destabilizing | 0.859 | D | 0.358 | neutral | None | None | None | None | N |
| S/I | 0.1083 | likely_benign | 0.1182 | benign | -0.15 | Destabilizing | 0.001 | N | 0.256 | neutral | None | None | None | None | N |
| S/K | 0.2751 | likely_benign | 0.3103 | benign | -0.248 | Destabilizing | 0.004 | N | 0.184 | neutral | None | None | None | None | N |
| S/L | 0.0806 | likely_benign | 0.0857 | benign | -0.15 | Destabilizing | 0.055 | N | 0.342 | neutral | None | None | None | None | N |
| S/M | 0.1539 | likely_benign | 0.1721 | benign | -0.25 | Destabilizing | 0.497 | N | 0.352 | neutral | None | None | None | None | N |
| S/N | 0.0893 | likely_benign | 0.0949 | benign | -0.188 | Destabilizing | 0.22 | N | 0.209 | neutral | None | None | None | None | N |
| S/P | 0.0928 | likely_benign | 0.098 | benign | -0.16 | Destabilizing | 0.001 | N | 0.235 | neutral | N | 0.497773535 | None | None | N |
| S/Q | 0.2505 | likely_benign | 0.2763 | benign | -0.308 | Destabilizing | 0.497 | N | 0.261 | neutral | None | None | None | None | N |
| S/R | 0.2212 | likely_benign | 0.2475 | benign | -0.098 | Destabilizing | 0.124 | N | 0.402 | neutral | None | None | None | None | N |
| S/T | 0.0655 | likely_benign | 0.07 | benign | -0.251 | Destabilizing | None | N | 0.15 | neutral | N | 0.457137633 | None | None | N |
| S/V | 0.1215 | likely_benign | 0.1367 | benign | -0.16 | Destabilizing | 0.055 | N | 0.393 | neutral | None | None | None | None | N |
| S/W | 0.2213 | likely_benign | 0.2384 | benign | -1.037 | Destabilizing | 0.883 | D | 0.373 | neutral | None | None | None | None | N |
| S/Y | 0.1204 | likely_benign | 0.1343 | benign | -0.693 | Destabilizing | 0.272 | N | 0.414 | neutral | D | 0.536542567 | 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.