Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2832 | 8719;8720;8721 | chr2:178770207;178770206;178770205 | chr2:179634934;179634933;179634932 |
| N2AB | 2832 | 8719;8720;8721 | chr2:178770207;178770206;178770205 | chr2:179634934;179634933;179634932 |
| N2A | 2832 | 8719;8720;8721 | chr2:178770207;178770206;178770205 | chr2:179634934;179634933;179634932 |
| N2B | 2786 | 8581;8582;8583 | chr2:178770207;178770206;178770205 | chr2:179634934;179634933;179634932 |
| Novex-1 | 2786 | 8581;8582;8583 | chr2:178770207;178770206;178770205 | chr2:179634934;179634933;179634932 |
| Novex-2 | 2786 | 8581;8582;8583 | chr2:178770207;178770206;178770205 | chr2:179634934;179634933;179634932 |
| Novex-3 | 2832 | 8719;8720;8721 | chr2:178770207;178770206;178770205 | chr2:179634934;179634933;179634932 |
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/L | rs375549179  |
0.118 | 0.454 | N | 0.24 | 0.219 | 0.29527378943 | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.33E-05 | 0 |
| V/L | rs375549179 |
0.118 | 0.454 | N | 0.24 | 0.219 | 0.29527378943 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| V/L | rs375549179 |
0.118 | 0.454 | N | 0.24 | 0.219 | 0.29527378943 | gnomAD-4.0.0 | 1.34446E-04 | None | None | None | None | N | None | 2.66937E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80506E-04 | 0 | 3.20061E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1181 | likely_benign | 0.1411 | benign | -0.684 | Destabilizing | 0.022 | N | 0.099 | neutral | N | 0.502071125 | None | None | N |
| V/C | 0.6076 | likely_pathogenic | 0.6661 | pathogenic | -0.729 | Destabilizing | 0.998 | D | 0.317 | neutral | None | None | None | None | N |
| V/D | 0.2438 | likely_benign | 0.3026 | benign | -0.083 | Destabilizing | 0.949 | D | 0.38 | neutral | None | None | None | None | N |
| V/E | 0.1631 | likely_benign | 0.1977 | benign | -0.116 | Destabilizing | 0.669 | D | 0.348 | neutral | N | 0.496780127 | None | None | N |
| V/F | 0.1527 | likely_benign | 0.1758 | benign | -0.515 | Destabilizing | 0.949 | D | 0.326 | neutral | None | None | None | None | N |
| V/G | 0.1958 | likely_benign | 0.2317 | benign | -0.904 | Destabilizing | 0.801 | D | 0.357 | neutral | N | 0.508923865 | None | None | N |
| V/H | 0.3648 | ambiguous | 0.4286 | ambiguous | -0.259 | Destabilizing | 0.993 | D | 0.352 | neutral | None | None | None | None | N |
| V/I | 0.0697 | likely_benign | 0.0741 | benign | -0.219 | Destabilizing | 0.016 | N | 0.177 | neutral | None | None | None | None | N |
| V/K | 0.1808 | likely_benign | 0.2148 | benign | -0.546 | Destabilizing | 0.728 | D | 0.343 | neutral | None | None | None | None | N |
| V/L | 0.1387 | likely_benign | 0.1695 | benign | -0.219 | Destabilizing | 0.454 | N | 0.24 | neutral | N | 0.507332381 | None | None | N |
| V/M | 0.0852 | likely_benign | 0.1005 | benign | -0.43 | Destabilizing | 0.934 | D | 0.323 | neutral | N | 0.509023002 | None | None | N |
| V/N | 0.1589 | likely_benign | 0.2012 | benign | -0.47 | Destabilizing | 0.974 | D | 0.384 | neutral | None | None | None | None | N |
| V/P | 0.8873 | likely_pathogenic | 0.9211 | pathogenic | -0.339 | Destabilizing | 0.974 | D | 0.346 | neutral | None | None | None | None | N |
| V/Q | 0.1677 | likely_benign | 0.2036 | benign | -0.58 | Destabilizing | 0.172 | N | 0.219 | neutral | None | None | None | None | N |
| V/R | 0.1766 | likely_benign | 0.2031 | benign | -0.109 | Destabilizing | 0.949 | D | 0.363 | neutral | None | None | None | None | N |
| V/S | 0.1417 | likely_benign | 0.1726 | benign | -0.949 | Destabilizing | 0.728 | D | 0.325 | neutral | None | None | None | None | N |
| V/T | 0.1024 | likely_benign | 0.1185 | benign | -0.867 | Destabilizing | 0.842 | D | 0.236 | neutral | None | None | None | None | N |
| V/W | 0.7041 | likely_pathogenic | 0.7611 | pathogenic | -0.645 | Destabilizing | 0.998 | D | 0.385 | neutral | None | None | None | None | N |
| V/Y | 0.4705 | ambiguous | 0.5395 | ambiguous | -0.344 | Destabilizing | 0.991 | D | 0.328 | 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.