Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1879 | 5860;5861;5862 | chr2:178776229;178776228;178776227 | chr2:179640956;179640955;179640954 |
| N2AB | 1879 | 5860;5861;5862 | chr2:178776229;178776228;178776227 | chr2:179640956;179640955;179640954 |
| N2A | 1879 | 5860;5861;5862 | chr2:178776229;178776228;178776227 | chr2:179640956;179640955;179640954 |
| N2B | 1833 | 5722;5723;5724 | chr2:178776229;178776228;178776227 | chr2:179640956;179640955;179640954 |
| Novex-1 | 1833 | 5722;5723;5724 | chr2:178776229;178776228;178776227 | chr2:179640956;179640955;179640954 |
| Novex-2 | 1833 | 5722;5723;5724 | chr2:178776229;178776228;178776227 | chr2:179640956;179640955;179640954 |
| Novex-3 | 1879 | 5860;5861;5862 | chr2:178776229;178776228;178776227 | chr2:179640956;179640955;179640954 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs1237628152  |
0.484 | 0.993 | N | 0.408 | 0.391 | 0.221734844693 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| Q/R | rs1237628152 |
0.484 | 0.993 | N | 0.408 | 0.391 | 0.221734844693 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs1237628152 |
0.484 | 0.993 | N | 0.408 | 0.391 | 0.221734844693 | gnomAD-4.0.0 | 3.84135E-06 | None | None | None | None | N | None | 3.38135E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.3917E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5319 | ambiguous | 0.538 | ambiguous | -0.15 | Destabilizing | 0.985 | D | 0.441 | neutral | None | None | None | None | N |
| Q/C | 0.9443 | likely_pathogenic | 0.9585 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| Q/D | 0.9361 | likely_pathogenic | 0.9372 | pathogenic | 0.146 | Stabilizing | 0.995 | D | 0.373 | neutral | None | None | None | None | N |
| Q/E | 0.3997 | ambiguous | 0.4099 | ambiguous | 0.13 | Stabilizing | 0.984 | D | 0.433 | neutral | N | 0.465260049 | None | None | N |
| Q/F | 0.9024 | likely_pathogenic | 0.9112 | pathogenic | -0.357 | Destabilizing | 0.991 | D | 0.591 | neutral | None | None | None | None | N |
| Q/G | 0.8027 | likely_pathogenic | 0.8038 | pathogenic | -0.334 | Destabilizing | 0.995 | D | 0.435 | neutral | None | None | None | None | N |
| Q/H | 0.6817 | likely_pathogenic | 0.7239 | pathogenic | -0.094 | Destabilizing | 0.998 | D | 0.407 | neutral | N | 0.514763418 | None | None | N |
| Q/I | 0.5452 | ambiguous | 0.579 | pathogenic | 0.246 | Stabilizing | 0.983 | D | 0.487 | neutral | None | None | None | None | N |
| Q/K | 0.5462 | ambiguous | 0.5416 | ambiguous | 0.078 | Stabilizing | 0.993 | D | 0.441 | neutral | N | 0.457448118 | None | None | N |
| Q/L | 0.2498 | likely_benign | 0.2524 | benign | 0.246 | Stabilizing | 0.071 | N | 0.312 | neutral | N | 0.50395388 | None | None | N |
| Q/M | 0.4283 | ambiguous | 0.4467 | ambiguous | 0.266 | Stabilizing | 0.991 | D | 0.405 | neutral | None | None | None | None | N |
| Q/N | 0.5573 | ambiguous | 0.5765 | pathogenic | -0.32 | Destabilizing | 0.999 | D | 0.367 | neutral | None | None | None | None | N |
| Q/P | 0.9676 | likely_pathogenic | 0.9662 | pathogenic | 0.142 | Stabilizing | 0.998 | D | 0.433 | neutral | D | 0.607019901 | None | None | N |
| Q/R | 0.6421 | likely_pathogenic | 0.6453 | pathogenic | 0.247 | Stabilizing | 0.993 | D | 0.408 | neutral | N | 0.489544662 | None | None | N |
| Q/S | 0.5582 | ambiguous | 0.56 | ambiguous | -0.312 | Destabilizing | 0.995 | D | 0.404 | neutral | None | None | None | None | N |
| Q/T | 0.485 | ambiguous | 0.5146 | ambiguous | -0.172 | Destabilizing | 0.985 | D | 0.392 | neutral | None | None | None | None | N |
| Q/V | 0.4514 | ambiguous | 0.4832 | ambiguous | 0.142 | Stabilizing | 0.942 | D | 0.46 | neutral | None | None | None | None | N |
| Q/W | 0.9662 | likely_pathogenic | 0.9698 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| Q/Y | 0.8701 | likely_pathogenic | 0.8843 | pathogenic | -0.096 | Destabilizing | 0.999 | D | 0.435 | 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.