Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14332 | 43219;43220;43221 | chr2:178633279;178633278;178633277 | chr2:179498006;179498005;179498004 |
| N2AB | 12691 | 38296;38297;38298 | chr2:178633279;178633278;178633277 | chr2:179498006;179498005;179498004 |
| N2A | 11764 | 35515;35516;35517 | chr2:178633279;178633278;178633277 | chr2:179498006;179498005;179498004 |
| N2B | 5267 | 16024;16025;16026 | chr2:178633279;178633278;178633277 | chr2:179498006;179498005;179498004 |
| Novex-1 | 5392 | 16399;16400;16401 | chr2:178633279;178633278;178633277 | chr2:179498006;179498005;179498004 |
| Novex-2 | 5459 | 16600;16601;16602 | chr2:178633279;178633278;178633277 | chr2:179498006;179498005;179498004 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1286707659  |
None | 0.255 | N | 0.271 | 0.144 | 0.265929055128 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs1286707659 |
None | 0.255 | N | 0.271 | 0.144 | 0.265929055128 | gnomAD-4.0.0 | 2.03007E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40997E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1623 | likely_benign | 0.1486 | benign | -1.622 | Destabilizing | 0.255 | N | 0.271 | neutral | N | 0.428278689 | None | None | N |
| V/C | 0.8354 | likely_pathogenic | 0.8107 | pathogenic | -1.07 | Destabilizing | 0.989 | D | 0.389 | neutral | None | None | None | None | N |
| V/D | 0.4502 | ambiguous | 0.4066 | ambiguous | -1.597 | Destabilizing | 0.001 | N | 0.195 | neutral | N | 0.415595134 | None | None | N |
| V/E | 0.2382 | likely_benign | 0.2317 | benign | -1.595 | Destabilizing | 0.001 | N | 0.155 | neutral | None | None | None | None | N |
| V/F | 0.3393 | likely_benign | 0.3136 | benign | -1.285 | Destabilizing | 0.947 | D | 0.481 | neutral | N | 0.439886863 | None | None | N |
| V/G | 0.3812 | ambiguous | 0.349 | ambiguous | -1.943 | Destabilizing | 0.454 | N | 0.475 | neutral | N | 0.430491704 | None | None | N |
| V/H | 0.7398 | likely_pathogenic | 0.6986 | pathogenic | -1.439 | Destabilizing | 0.887 | D | 0.507 | neutral | None | None | None | None | N |
| V/I | 0.0955 | likely_benign | 0.0912 | benign | -0.835 | Destabilizing | 0.627 | D | 0.43 | neutral | N | 0.437858891 | None | None | N |
| V/K | 0.44 | ambiguous | 0.429 | ambiguous | -1.326 | Destabilizing | 0.015 | N | 0.253 | neutral | None | None | None | None | N |
| V/L | 0.3079 | likely_benign | 0.269 | benign | -0.835 | Destabilizing | 0.255 | N | 0.403 | neutral | N | 0.435073127 | None | None | N |
| V/M | 0.2618 | likely_benign | 0.2346 | benign | -0.596 | Destabilizing | 0.96 | D | 0.411 | neutral | None | None | None | None | N |
| V/N | 0.4303 | ambiguous | 0.4025 | ambiguous | -1.149 | Destabilizing | 0.524 | D | 0.486 | neutral | None | None | None | None | N |
| V/P | 0.5706 | likely_pathogenic | 0.5453 | ambiguous | -1.064 | Destabilizing | 0.691 | D | 0.534 | neutral | None | None | None | None | N |
| V/Q | 0.3947 | ambiguous | 0.3755 | ambiguous | -1.343 | Destabilizing | 0.355 | N | 0.488 | neutral | None | None | None | None | N |
| V/R | 0.3868 | ambiguous | 0.3845 | ambiguous | -0.747 | Destabilizing | 0.355 | N | 0.533 | neutral | None | None | None | None | N |
| V/S | 0.2424 | likely_benign | 0.2296 | benign | -1.668 | Destabilizing | 0.312 | N | 0.427 | neutral | None | None | None | None | N |
| V/T | 0.208 | likely_benign | 0.1836 | benign | -1.561 | Destabilizing | 0.524 | D | 0.305 | neutral | None | None | None | None | N |
| V/W | 0.92 | likely_pathogenic | 0.8967 | pathogenic | -1.481 | Destabilizing | 0.989 | D | 0.572 | neutral | None | None | None | None | N |
| V/Y | 0.7605 | likely_pathogenic | 0.7336 | pathogenic | -1.199 | Destabilizing | 0.96 | D | 0.481 | 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.