Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3707 | 11344;11345;11346 | chr2:178756357;178756356;178756355 | chr2:179621084;179621083;179621082 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3536 | 10831;10832;10833 | chr2:178756357;178756356;178756355 | chr2:179621084;179621083;179621082 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | None | None | None | None | None | 0.11 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.378 | ambiguous | None | None | -0.431 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.6209 | likely_pathogenic | None | None | -0.488 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.6575 | likely_pathogenic | None | None | -0.348 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.1506 | likely_benign | None | None | -0.271 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/F | 0.61 | likely_pathogenic | None | None | -0.355 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.4617 | ambiguous | None | None | -0.768 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.274 | likely_benign | None | None | -1.269 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.2443 | likely_benign | None | None | 0.426 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/L | 0.2645 | likely_benign | None | None | 0.426 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.1995 | likely_benign | None | None | 0.473 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/N | 0.4024 | ambiguous | None | None | -0.361 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/P | 0.8473 | likely_pathogenic | None | None | 0.171 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.104 | likely_benign | None | None | -0.538 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/R | 0.0806 | likely_benign | None | None | -0.536 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/S | 0.407 | ambiguous | None | None | -0.964 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.1678 | likely_benign | None | None | -0.695 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/V | 0.2814 | likely_benign | None | None | 0.171 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.6578 | likely_pathogenic | None | None | -0.26 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.5071 | ambiguous | None | None | 0.088 | Stabilizing | None | None | None | None | 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.