Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20153 | 60682;60683;60684 | chr2:178591268;178591267;178591266 | chr2:179455995;179455994;179455993 |
| N2AB | 18512 | 55759;55760;55761 | chr2:178591268;178591267;178591266 | chr2:179455995;179455994;179455993 |
| N2A | 17585 | 52978;52979;52980 | chr2:178591268;178591267;178591266 | chr2:179455995;179455994;179455993 |
| N2B | 11088 | 33487;33488;33489 | chr2:178591268;178591267;178591266 | chr2:179455995;179455994;179455993 |
| Novex-1 | 11213 | 33862;33863;33864 | chr2:178591268;178591267;178591266 | chr2:179455995;179455994;179455993 |
| Novex-2 | 11280 | 34063;34064;34065 | chr2:178591268;178591267;178591266 | chr2:179455995;179455994;179455993 |
| 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 | rs1340218064  |
-2.497 | 0.014 | N | 0.322 | 0.269 | 0.229264304666 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| V/A | rs1340218064 |
-2.497 | 0.014 | N | 0.322 | 0.269 | 0.229264304666 | 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 | rs1340218064 |
-2.497 | 0.014 | N | 0.322 | 0.269 | 0.229264304666 | gnomAD-4.0.0 | 6.5812E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47171E-05 | 0 | 0 |
| V/G | None | None | 0.89 | D | 0.792 | 0.528 | 0.759687398634 | gnomAD-4.0.0 | 8.21301E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07959E-05 | 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 | 0.2688 | likely_benign | 0.3419 | ambiguous | -1.405 | Destabilizing | 0.014 | N | 0.322 | neutral | N | 0.406969811 | None | None | N |
| V/C | 0.8881 | likely_pathogenic | 0.9074 | pathogenic | -1.342 | Destabilizing | 0.994 | D | 0.839 | deleterious | None | None | None | None | N |
| V/D | 0.9961 | likely_pathogenic | 0.9977 | pathogenic | -1.29 | Destabilizing | 0.971 | D | 0.865 | deleterious | D | 0.533104058 | None | None | N |
| V/E | 0.9916 | likely_pathogenic | 0.9945 | pathogenic | -1.303 | Destabilizing | 0.956 | D | 0.837 | deleterious | None | None | None | None | N |
| V/F | 0.8319 | likely_pathogenic | 0.8991 | pathogenic | -1.322 | Destabilizing | 0.971 | D | 0.841 | deleterious | N | 0.521494263 | None | None | N |
| V/G | 0.7239 | likely_pathogenic | 0.8051 | pathogenic | -1.687 | Destabilizing | 0.89 | D | 0.792 | deleterious | D | 0.535662706 | None | None | N |
| V/H | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -1.26 | Destabilizing | 0.998 | D | 0.866 | deleterious | None | None | None | None | N |
| V/I | 0.1319 | likely_benign | 0.1549 | benign | -0.737 | Destabilizing | 0.656 | D | 0.569 | neutral | D | 0.529350022 | None | None | N |
| V/K | 0.9963 | likely_pathogenic | 0.9975 | pathogenic | -1.029 | Destabilizing | 0.956 | D | 0.844 | deleterious | None | None | None | None | N |
| V/L | 0.4548 | ambiguous | 0.5496 | ambiguous | -0.737 | Destabilizing | 0.489 | N | 0.637 | neutral | N | 0.474459532 | None | None | N |
| V/M | 0.5994 | likely_pathogenic | 0.7119 | pathogenic | -0.7 | Destabilizing | 0.993 | D | 0.757 | deleterious | None | None | None | None | N |
| V/N | 0.9859 | likely_pathogenic | 0.9916 | pathogenic | -0.891 | Destabilizing | 0.978 | D | 0.879 | deleterious | None | None | None | None | N |
| V/P | 0.9958 | likely_pathogenic | 0.997 | pathogenic | -0.926 | Destabilizing | 0.978 | D | 0.855 | deleterious | None | None | None | None | N |
| V/Q | 0.9899 | likely_pathogenic | 0.993 | pathogenic | -1.107 | Destabilizing | 0.978 | D | 0.867 | deleterious | None | None | None | None | N |
| V/R | 0.9909 | likely_pathogenic | 0.9933 | pathogenic | -0.578 | Destabilizing | 0.956 | D | 0.872 | deleterious | None | None | None | None | N |
| V/S | 0.8051 | likely_pathogenic | 0.8683 | pathogenic | -1.443 | Destabilizing | 0.915 | D | 0.794 | deleterious | None | None | None | None | N |
| V/T | 0.6328 | likely_pathogenic | 0.7251 | pathogenic | -1.344 | Destabilizing | 0.86 | D | 0.648 | neutral | None | None | None | None | N |
| V/W | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.45 | Destabilizing | 0.998 | D | 0.847 | deleterious | None | None | None | None | N |
| V/Y | 0.99 | likely_pathogenic | 0.9943 | pathogenic | -1.12 | Destabilizing | 0.993 | D | 0.84 | deleterious | 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.