Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20523 | 61792;61793;61794 | chr2:178590158;178590157;178590156 | chr2:179454885;179454884;179454883 |
| N2AB | 18882 | 56869;56870;56871 | chr2:178590158;178590157;178590156 | chr2:179454885;179454884;179454883 |
| N2A | 17955 | 54088;54089;54090 | chr2:178590158;178590157;178590156 | chr2:179454885;179454884;179454883 |
| N2B | 11458 | 34597;34598;34599 | chr2:178590158;178590157;178590156 | chr2:179454885;179454884;179454883 |
| Novex-1 | 11583 | 34972;34973;34974 | chr2:178590158;178590157;178590156 | chr2:179454885;179454884;179454883 |
| Novex-2 | 11650 | 35173;35174;35175 | chr2:178590158;178590157;178590156 | chr2:179454885;179454884;179454883 |
| 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/G | rs1461050183  |
None | 0.968 | N | 0.738 | 0.482 | 0.666713593321 | 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/G | rs1461050183 |
None | 0.968 | N | 0.738 | 0.482 | 0.666713593321 | gnomAD-4.0.0 | 7.43992E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01743E-05 | 0 | 0 |
| V/M | rs2049899591 |
None | 0.984 | N | 0.605 | 0.246 | 0.497021753114 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs2049899591 |
None | 0.984 | N | 0.605 | 0.246 | 0.497021753114 | gnomAD-4.0.0 | 6.57687E-06 | None | None | None | None | N | None | 2.41383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1844 | likely_benign | 0.2111 | benign | -2.19 | Highly Destabilizing | 0.64 | D | 0.585 | neutral | N | 0.463546318 | None | None | N |
| V/C | 0.6421 | likely_pathogenic | 0.6535 | pathogenic | -1.677 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | N |
| V/D | 0.6796 | likely_pathogenic | 0.786 | pathogenic | -2.759 | Highly Destabilizing | 0.976 | D | 0.758 | deleterious | None | None | None | None | N |
| V/E | 0.533 | ambiguous | 0.6391 | pathogenic | -2.624 | Highly Destabilizing | 0.968 | D | 0.698 | prob.neutral | D | 0.531387463 | None | None | N |
| V/F | 0.2421 | likely_benign | 0.2591 | benign | -1.376 | Destabilizing | 0.988 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/G | 0.2927 | likely_benign | 0.3578 | ambiguous | -2.648 | Highly Destabilizing | 0.968 | D | 0.738 | prob.delet. | N | 0.485709691 | None | None | N |
| V/H | 0.7158 | likely_pathogenic | 0.7957 | pathogenic | -2.318 | Highly Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| V/I | 0.0831 | likely_benign | 0.0805 | benign | -0.944 | Destabilizing | 0.132 | N | 0.373 | neutral | None | None | None | None | N |
| V/K | 0.5989 | likely_pathogenic | 0.7061 | pathogenic | -2.009 | Highly Destabilizing | 0.976 | D | 0.701 | prob.neutral | None | None | None | None | N |
| V/L | 0.2574 | likely_benign | 0.245 | benign | -0.944 | Destabilizing | 0.64 | D | 0.535 | neutral | N | 0.489999413 | None | None | N |
| V/M | 0.1724 | likely_benign | 0.1528 | benign | -0.867 | Destabilizing | 0.984 | D | 0.605 | neutral | N | 0.509049321 | None | None | N |
| V/N | 0.4756 | ambiguous | 0.5847 | pathogenic | -2.082 | Highly Destabilizing | 0.976 | D | 0.756 | deleterious | None | None | None | None | N |
| V/P | 0.8903 | likely_pathogenic | 0.9353 | pathogenic | -1.331 | Destabilizing | 0.988 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/Q | 0.5292 | ambiguous | 0.6257 | pathogenic | -2.074 | Highly Destabilizing | 0.988 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/R | 0.5355 | ambiguous | 0.6606 | pathogenic | -1.594 | Destabilizing | 0.988 | D | 0.758 | deleterious | None | None | None | None | N |
| V/S | 0.2931 | likely_benign | 0.3664 | ambiguous | -2.634 | Highly Destabilizing | 0.851 | D | 0.669 | neutral | None | None | None | None | N |
| V/T | 0.1515 | likely_benign | 0.1717 | benign | -2.382 | Highly Destabilizing | 0.132 | N | 0.305 | neutral | None | None | None | None | N |
| V/W | 0.8408 | likely_pathogenic | 0.8604 | pathogenic | -1.819 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/Y | 0.6099 | likely_pathogenic | 0.6557 | pathogenic | -1.519 | Destabilizing | 0.996 | D | 0.686 | prob.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.