Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16218 | 48877;48878;48879 | chr2:178614955;178614954;178614953 | chr2:179479682;179479681;179479680 |
| N2AB | 14577 | 43954;43955;43956 | chr2:178614955;178614954;178614953 | chr2:179479682;179479681;179479680 |
| N2A | 13650 | 41173;41174;41175 | chr2:178614955;178614954;178614953 | chr2:179479682;179479681;179479680 |
| N2B | 7153 | 21682;21683;21684 | chr2:178614955;178614954;178614953 | chr2:179479682;179479681;179479680 |
| Novex-1 | 7278 | 22057;22058;22059 | chr2:178614955;178614954;178614953 | chr2:179479682;179479681;179479680 |
| Novex-2 | 7345 | 22258;22259;22260 | chr2:178614955;178614954;178614953 | chr2:179479682;179479681;179479680 |
| 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/S | rs566086846  |
-0.324 | 0.955 | D | 0.663 | 0.299 | 0.225215365344 | gnomAD-2.1.1 | 8.78E-06 | None | None | None | None | N | None | 0 | 3.11E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.77683E-04 |
| G/S | rs566086846 |
-0.324 | 0.955 | D | 0.663 | 0.299 | 0.225215365344 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31423E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs566086846 |
-0.324 | 0.955 | D | 0.663 | 0.299 | 0.225215365344 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/S | rs566086846 |
-0.324 | 0.955 | D | 0.663 | 0.299 | 0.225215365344 | gnomAD-4.0.0 | 5.22654E-06 | None | None | None | None | N | None | 0 | 5.2567E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.89001E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1895 | likely_benign | 0.1923 | benign | -0.269 | Destabilizing | 0.977 | D | 0.593 | neutral | D | 0.659666847 | None | None | N |
| G/C | 0.3196 | likely_benign | 0.3097 | benign | -0.871 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.764234998 | None | None | N |
| G/D | 0.1504 | likely_benign | 0.1405 | benign | -0.564 | Destabilizing | 0.987 | D | 0.717 | prob.delet. | N | 0.472760717 | None | None | N |
| G/E | 0.2536 | likely_benign | 0.2568 | benign | -0.724 | Destabilizing | 0.99 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/F | 0.7288 | likely_pathogenic | 0.74 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/H | 0.3712 | ambiguous | 0.372 | ambiguous | -0.522 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| G/I | 0.5826 | likely_pathogenic | 0.5904 | pathogenic | -0.389 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| G/K | 0.373 | ambiguous | 0.4055 | ambiguous | -0.825 | Destabilizing | 0.289 | N | 0.389 | neutral | None | None | None | None | N |
| G/L | 0.5784 | likely_pathogenic | 0.597 | pathogenic | -0.389 | Destabilizing | 0.995 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/M | 0.577 | likely_pathogenic | 0.6032 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/N | 0.174 | likely_benign | 0.1814 | benign | -0.442 | Destabilizing | 0.289 | N | 0.337 | neutral | None | None | None | None | N |
| G/P | 0.9134 | likely_pathogenic | 0.9048 | pathogenic | -0.316 | Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
| G/Q | 0.3217 | likely_benign | 0.3398 | benign | -0.728 | Destabilizing | 0.995 | D | 0.743 | deleterious | None | None | None | None | N |
| G/R | 0.3504 | ambiguous | 0.3631 | ambiguous | -0.38 | Destabilizing | 0.987 | D | 0.731 | prob.delet. | D | 0.58025989 | None | None | N |
| G/S | 0.1165 | likely_benign | 0.1169 | benign | -0.594 | Destabilizing | 0.955 | D | 0.663 | neutral | D | 0.527738046 | None | None | N |
| G/T | 0.2329 | likely_benign | 0.2468 | benign | -0.683 | Destabilizing | 0.995 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/V | 0.426 | ambiguous | 0.4331 | ambiguous | -0.316 | Destabilizing | 0.997 | D | 0.733 | prob.delet. | D | 0.7634792 | None | None | N |
| G/W | 0.6126 | likely_pathogenic | 0.5919 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5653 | likely_pathogenic | 0.5657 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.767 | 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.