Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27578 | 82957;82958;82959 | chr2:178563400;178563399;178563398 | chr2:179428127;179428126;179428125 |
| N2AB | 25937 | 78034;78035;78036 | chr2:178563400;178563399;178563398 | chr2:179428127;179428126;179428125 |
| N2A | 25010 | 75253;75254;75255 | chr2:178563400;178563399;178563398 | chr2:179428127;179428126;179428125 |
| N2B | 18513 | 55762;55763;55764 | chr2:178563400;178563399;178563398 | chr2:179428127;179428126;179428125 |
| Novex-1 | 18638 | 56137;56138;56139 | chr2:178563400;178563399;178563398 | chr2:179428127;179428126;179428125 |
| Novex-2 | 18705 | 56338;56339;56340 | chr2:178563400;178563399;178563398 | chr2:179428127;179428126;179428125 |
| 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/E | rs368850871  |
0.252 | 0.999 | N | 0.617 | 0.325 | None | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 5.97848E-04 | 0 | None | 3.27E-05 | None | 0 | 8.92E-06 | 0 |
| K/E | rs368850871 |
0.252 | 0.999 | N | 0.617 | 0.325 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 1.1534E-03 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs368850871 |
0.252 | 0.999 | N | 0.617 | 0.325 | None | gnomAD-4.0.0 | 1.73541E-05 | None | None | None | None | N | None | 0 | 0 | None | 6.75767E-04 | 0 | None | 0 | 0 | 8.47652E-07 | 1.09791E-05 | 9.6083E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5647 | likely_pathogenic | 0.4684 | ambiguous | -0.454 | Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| K/C | 0.7243 | likely_pathogenic | 0.6915 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| K/D | 0.8957 | likely_pathogenic | 0.8597 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| K/E | 0.4341 | ambiguous | 0.3363 | benign | 0.102 | Stabilizing | 0.999 | D | 0.617 | neutral | N | 0.497740957 | None | None | N |
| K/F | 0.847 | likely_pathogenic | 0.8037 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| K/G | 0.7559 | likely_pathogenic | 0.6864 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| K/H | 0.3694 | ambiguous | 0.3194 | benign | -1.138 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| K/I | 0.4628 | ambiguous | 0.3871 | ambiguous | 0.448 | Stabilizing | 1.0 | D | 0.887 | deleterious | N | 0.475803011 | None | None | N |
| K/L | 0.5419 | ambiguous | 0.4587 | ambiguous | 0.448 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| K/M | 0.3783 | ambiguous | 0.3011 | benign | 0.236 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| K/N | 0.7715 | likely_pathogenic | 0.7067 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.47365019 | None | None | N |
| K/P | 0.9792 | likely_pathogenic | 0.9743 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| K/Q | 0.2102 | likely_benign | 0.1676 | benign | -0.469 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.505936366 | None | None | N |
| K/R | 0.0727 | likely_benign | 0.0699 | benign | -0.574 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.45835585 | None | None | N |
| K/S | 0.6918 | likely_pathogenic | 0.6053 | pathogenic | -1.051 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/T | 0.341 | ambiguous | 0.2584 | benign | -0.743 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.489273403 | None | None | N |
| K/V | 0.3763 | ambiguous | 0.3178 | benign | 0.178 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| K/W | 0.8216 | likely_pathogenic | 0.797 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| K/Y | 0.7511 | likely_pathogenic | 0.7105 | pathogenic | 0.208 | Stabilizing | 1.0 | D | 0.869 | 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.