Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27140 | 81643;81644;81645 | chr2:178564714;178564713;178564712 | chr2:179429441;179429440;179429439 |
| N2AB | 25499 | 76720;76721;76722 | chr2:178564714;178564713;178564712 | chr2:179429441;179429440;179429439 |
| N2A | 24572 | 73939;73940;73941 | chr2:178564714;178564713;178564712 | chr2:179429441;179429440;179429439 |
| N2B | 18075 | 54448;54449;54450 | chr2:178564714;178564713;178564712 | chr2:179429441;179429440;179429439 |
| Novex-1 | 18200 | 54823;54824;54825 | chr2:178564714;178564713;178564712 | chr2:179429441;179429440;179429439 |
| Novex-2 | 18267 | 55024;55025;55026 | chr2:178564714;178564713;178564712 | chr2:179429441;179429440;179429439 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.798 | 0.597 | 0.416075642716 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| G/S | None | None | 1.0 | N | 0.804 | 0.521 | 0.376216005999 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6726 | likely_pathogenic | 0.5261 | ambiguous | -0.642 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.497446573 | None | None | N |
| G/C | 0.7137 | likely_pathogenic | 0.5481 | ambiguous | -0.839 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.550330988 | None | None | N |
| G/D | 0.7551 | likely_pathogenic | 0.6163 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.491330507 | None | None | N |
| G/E | 0.8741 | likely_pathogenic | 0.7687 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/F | 0.9251 | likely_pathogenic | 0.8718 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/H | 0.9188 | likely_pathogenic | 0.8395 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/I | 0.9297 | likely_pathogenic | 0.8743 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/K | 0.9679 | likely_pathogenic | 0.9319 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/L | 0.9153 | likely_pathogenic | 0.8474 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/M | 0.9208 | likely_pathogenic | 0.845 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/N | 0.6305 | likely_pathogenic | 0.4858 | ambiguous | -0.823 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/P | 0.9952 | likely_pathogenic | 0.9934 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/Q | 0.9156 | likely_pathogenic | 0.8368 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/R | 0.94 | likely_pathogenic | 0.8851 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.537707235 | None | None | N |
| G/S | 0.431 | ambiguous | 0.2806 | benign | -0.985 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.506472248 | None | None | N |
| G/T | 0.784 | likely_pathogenic | 0.645 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/V | 0.8781 | likely_pathogenic | 0.7903 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.531719754 | None | None | N |
| G/W | 0.9063 | likely_pathogenic | 0.8287 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/Y | 0.8665 | likely_pathogenic | 0.777 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.809 | 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.