Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35137 | 105634;105635;105636 | chr2:178531206;178531205;178531204 | chr2:179395933;179395932;179395931 |
| N2AB | 33496 | 100711;100712;100713 | chr2:178531206;178531205;178531204 | chr2:179395933;179395932;179395931 |
| N2A | 32569 | 97930;97931;97932 | chr2:178531206;178531205;178531204 | chr2:179395933;179395932;179395931 |
| N2B | 26072 | 78439;78440;78441 | chr2:178531206;178531205;178531204 | chr2:179395933;179395932;179395931 |
| Novex-1 | 26197 | 78814;78815;78816 | chr2:178531206;178531205;178531204 | chr2:179395933;179395932;179395931 |
| Novex-2 | 26264 | 79015;79016;79017 | chr2:178531206;178531205;178531204 | chr2:179395933;179395932;179395931 |
| 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 | rs1427963030  |
-0.331 | 1.0 | N | 0.742 | 0.462 | 0.36036328697 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65399E-04 |
| S/C | rs1427963030 |
-0.331 | 1.0 | N | 0.742 | 0.462 | 0.36036328697 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| S/C | rs1427963030 |
-0.331 | 1.0 | N | 0.742 | 0.462 | 0.36036328697 | gnomAD-4.0.0 | 3.84244E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.70662E-05 | 0 | 0 | 0 | 0 |
| S/P | rs2154133339 |
None | 1.0 | N | 0.811 | 0.495 | 0.242825505644 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| S/P | rs2154133339 |
None | 1.0 | N | 0.811 | 0.495 | 0.242825505644 | gnomAD-4.0.0 | 2.56149E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39264E-06 | 0 | 2.84155E-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 | 0.189 | likely_benign | 0.27 | benign | -0.69 | Destabilizing | 0.997 | D | 0.4 | neutral | N | 0.487224814 | None | None | N |
| S/C | 0.4801 | ambiguous | 0.5505 | ambiguous | -0.413 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.484320208 | None | None | N |
| S/D | 0.6223 | likely_pathogenic | 0.7035 | pathogenic | 0.275 | Stabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| S/E | 0.8137 | likely_pathogenic | 0.9007 | pathogenic | 0.254 | Stabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| S/F | 0.6883 | likely_pathogenic | 0.8462 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.468417999 | None | None | N |
| S/G | 0.192 | likely_benign | 0.2473 | benign | -0.896 | Destabilizing | 0.999 | D | 0.471 | neutral | None | None | None | None | N |
| S/H | 0.6897 | likely_pathogenic | 0.8064 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| S/I | 0.6458 | likely_pathogenic | 0.8225 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| S/K | 0.9222 | likely_pathogenic | 0.9667 | pathogenic | -0.46 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| S/L | 0.3772 | ambiguous | 0.5615 | ambiguous | -0.256 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| S/M | 0.5779 | likely_pathogenic | 0.7366 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| S/N | 0.2404 | likely_benign | 0.3449 | ambiguous | -0.354 | Destabilizing | 0.999 | D | 0.58 | neutral | None | None | None | None | N |
| S/P | 0.3935 | ambiguous | 0.418 | ambiguous | -0.368 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.487166099 | None | None | N |
| S/Q | 0.8021 | likely_pathogenic | 0.8994 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| S/R | 0.8839 | likely_pathogenic | 0.9501 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| S/T | 0.1684 | likely_benign | 0.2212 | benign | -0.426 | Destabilizing | 0.999 | D | 0.445 | neutral | N | 0.43256361 | None | None | N |
| S/V | 0.62 | likely_pathogenic | 0.7936 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| S/W | 0.7723 | likely_pathogenic | 0.8644 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| S/Y | 0.5918 | likely_pathogenic | 0.7464 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.460936034 | 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.