Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22200 | 66823;66824;66825 | chr2:178581670;178581669;178581668 | chr2:179446397;179446396;179446395 |
| N2AB | 20559 | 61900;61901;61902 | chr2:178581670;178581669;178581668 | chr2:179446397;179446396;179446395 |
| N2A | 19632 | 59119;59120;59121 | chr2:178581670;178581669;178581668 | chr2:179446397;179446396;179446395 |
| N2B | 13135 | 39628;39629;39630 | chr2:178581670;178581669;178581668 | chr2:179446397;179446396;179446395 |
| Novex-1 | 13260 | 40003;40004;40005 | chr2:178581670;178581669;178581668 | chr2:179446397;179446396;179446395 |
| Novex-2 | 13327 | 40204;40205;40206 | chr2:178581670;178581669;178581668 | chr2:179446397;179446396;179446395 |
| 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/C | None | None | 0.873 | N | 0.469 | 0.321 | 0.340992353424 | gnomAD-4.0.0 | 1.36939E-06 | None | None | None | None | N | None | 2.99222E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99875E-07 | 0 | 0 |
| S/F | rs749655019  |
-1.32 | 0.873 | N | 0.475 | 0.236 | 0.462111473445 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63666E-04 | None | 0 | 0 | 0 |
| S/F | rs749655019 |
-1.32 | 0.873 | N | 0.475 | 0.236 | 0.462111473445 | gnomAD-4.0.0 | 6.84693E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79975E-06 | 8.11933E-05 | 1.65815E-05 |
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 | 0.0927 | likely_benign | 0.0819 | benign | -0.395 | Destabilizing | None | N | 0.135 | neutral | N | 0.458739852 | None | None | N |
| S/C | 0.1308 | likely_benign | 0.1268 | benign | -0.205 | Destabilizing | 0.873 | D | 0.469 | neutral | N | 0.507185674 | None | None | N |
| S/D | 0.353 | ambiguous | 0.3348 | benign | -0.31 | Destabilizing | 0.561 | D | 0.385 | neutral | None | None | None | None | N |
| S/E | 0.4921 | ambiguous | 0.4549 | ambiguous | -0.406 | Destabilizing | 0.561 | D | 0.392 | neutral | None | None | None | None | N |
| S/F | 0.3845 | ambiguous | 0.3381 | benign | -0.931 | Destabilizing | 0.873 | D | 0.475 | neutral | N | 0.475002862 | None | None | N |
| S/G | 0.0977 | likely_benign | 0.0879 | benign | -0.52 | Destabilizing | 0.002 | N | 0.125 | neutral | None | None | None | None | N |
| S/H | 0.3948 | ambiguous | 0.3909 | ambiguous | -1.034 | Destabilizing | 0.965 | D | 0.469 | neutral | None | None | None | None | N |
| S/I | 0.3118 | likely_benign | 0.2799 | benign | -0.192 | Destabilizing | 0.561 | D | 0.438 | neutral | None | None | None | None | N |
| S/K | 0.6559 | likely_pathogenic | 0.645 | pathogenic | -0.647 | Destabilizing | 0.561 | D | 0.397 | neutral | None | None | None | None | N |
| S/L | 0.1423 | likely_benign | 0.1273 | benign | -0.192 | Destabilizing | 0.209 | N | 0.413 | neutral | None | None | None | None | N |
| S/M | 0.2249 | likely_benign | 0.2075 | benign | 0.219 | Stabilizing | 0.965 | D | 0.468 | neutral | None | None | None | None | N |
| S/N | 0.1658 | likely_benign | 0.1511 | benign | -0.336 | Destabilizing | 0.561 | D | 0.408 | neutral | None | None | None | None | N |
| S/P | 0.7593 | likely_pathogenic | 0.791 | pathogenic | -0.231 | Destabilizing | 0.662 | D | 0.458 | neutral | N | 0.48925476 | None | None | N |
| S/Q | 0.499 | ambiguous | 0.4687 | ambiguous | -0.657 | Destabilizing | 0.901 | D | 0.436 | neutral | None | None | None | None | N |
| S/R | 0.6386 | likely_pathogenic | 0.6099 | pathogenic | -0.333 | Destabilizing | 0.561 | D | 0.448 | neutral | None | None | None | None | N |
| S/T | 0.0807 | likely_benign | 0.0751 | benign | -0.419 | Destabilizing | 0.002 | N | 0.125 | neutral | N | 0.429129021 | None | None | N |
| S/V | 0.256 | likely_benign | 0.2313 | benign | -0.231 | Destabilizing | 0.209 | N | 0.415 | neutral | None | None | None | None | N |
| S/W | 0.5249 | ambiguous | 0.5248 | ambiguous | -0.928 | Destabilizing | 0.991 | D | 0.492 | neutral | None | None | None | None | N |
| S/Y | 0.3153 | likely_benign | 0.2979 | benign | -0.672 | Destabilizing | 0.954 | D | 0.477 | neutral | N | 0.506932185 | 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.