Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6575 | 19948;19949;19950 | chr2:178727855;178727854;178727853 | chr2:179592582;179592581;179592580 |
| N2AB | 6258 | 18997;18998;18999 | chr2:178727855;178727854;178727853 | chr2:179592582;179592581;179592580 |
| N2A | 5331 | 16216;16217;16218 | chr2:178727855;178727854;178727853 | chr2:179592582;179592581;179592580 |
| 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/N | rs560328343  |
0.125 | 0.999 | N | 0.503 | 0.302 | 0.346768085243 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs560328343 |
0.125 | 0.999 | N | 0.503 | 0.302 | 0.346768085243 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/N | rs560328343 |
0.125 | 0.999 | N | 0.503 | 0.302 | 0.346768085243 | gnomAD-4.0.0 | 1.26495E-06 | None | None | None | None | N | None | 1.36206E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.5773E-07 | 0 | 0 |
| S/T | None | None | 0.98 | N | 0.523 | 0.257 | 0.276898752692 | gnomAD-4.0.0 | 1.39967E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.82169E-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 | 0.0862 | likely_benign | 0.0823 | benign | -0.561 | Destabilizing | 0.964 | D | 0.401 | neutral | None | None | None | None | N |
| S/C | 0.1108 | likely_benign | 0.1161 | benign | -0.313 | Destabilizing | 1.0 | D | 0.568 | neutral | N | 0.514231972 | None | None | N |
| S/D | 0.4111 | ambiguous | 0.4051 | ambiguous | 0.487 | Stabilizing | 0.999 | D | 0.487 | neutral | None | None | None | None | N |
| S/E | 0.4572 | ambiguous | 0.4777 | ambiguous | 0.538 | Stabilizing | 0.998 | D | 0.479 | neutral | None | None | None | None | N |
| S/F | 0.1627 | likely_benign | 0.184 | benign | -0.76 | Destabilizing | 0.998 | D | 0.674 | neutral | None | None | None | None | N |
| S/G | 0.1148 | likely_benign | 0.1 | benign | -0.833 | Destabilizing | 0.997 | D | 0.499 | neutral | D | 0.525081298 | None | None | N |
| S/H | 0.2646 | likely_benign | 0.2868 | benign | -1.09 | Destabilizing | 1.0 | D | 0.567 | neutral | None | None | None | None | N |
| S/I | 0.1427 | likely_benign | 0.1385 | benign | 0.064 | Stabilizing | 0.4 | N | 0.401 | neutral | N | 0.507230533 | None | None | N |
| S/K | 0.5169 | ambiguous | 0.5239 | ambiguous | -0.06 | Destabilizing | 0.998 | D | 0.483 | neutral | None | None | None | None | N |
| S/L | 0.1105 | likely_benign | 0.1114 | benign | 0.064 | Stabilizing | 0.931 | D | 0.553 | neutral | None | None | None | None | N |
| S/M | 0.2248 | likely_benign | 0.217 | benign | -0.015 | Destabilizing | 0.998 | D | 0.587 | neutral | None | None | None | None | N |
| S/N | 0.157 | likely_benign | 0.1447 | benign | -0.209 | Destabilizing | 0.999 | D | 0.503 | neutral | N | 0.501608219 | None | None | N |
| S/P | 0.8877 | likely_pathogenic | 0.9021 | pathogenic | -0.11 | Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | N |
| S/Q | 0.3897 | ambiguous | 0.4057 | ambiguous | -0.175 | Destabilizing | 0.999 | D | 0.509 | neutral | None | None | None | None | N |
| S/R | 0.3532 | ambiguous | 0.367 | ambiguous | -0.149 | Destabilizing | 0.999 | D | 0.583 | neutral | D | 0.528805731 | None | None | N |
| S/T | 0.0787 | likely_benign | 0.0789 | benign | -0.236 | Destabilizing | 0.98 | D | 0.523 | neutral | N | 0.496290667 | None | None | N |
| S/V | 0.1421 | likely_benign | 0.1408 | benign | -0.11 | Destabilizing | 0.469 | N | 0.434 | neutral | None | None | None | None | N |
| S/W | 0.3447 | ambiguous | 0.4037 | ambiguous | -0.794 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| S/Y | 0.1609 | likely_benign | 0.1856 | benign | -0.437 | Destabilizing | 0.999 | D | 0.672 | 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.