Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19052 | 57379;57380;57381 | chr2:178598016;178598015;178598014 | chr2:179462743;179462742;179462741 |
| N2AB | 17411 | 52456;52457;52458 | chr2:178598016;178598015;178598014 | chr2:179462743;179462742;179462741 |
| N2A | 16484 | 49675;49676;49677 | chr2:178598016;178598015;178598014 | chr2:179462743;179462742;179462741 |
| N2B | 9987 | 30184;30185;30186 | chr2:178598016;178598015;178598014 | chr2:179462743;179462742;179462741 |
| Novex-1 | 10112 | 30559;30560;30561 | chr2:178598016;178598015;178598014 | chr2:179462743;179462742;179462741 |
| Novex-2 | 10179 | 30760;30761;30762 | chr2:178598016;178598015;178598014 | chr2:179462743;179462742;179462741 |
| 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/E | rs867041175  |
None | 0.01 | N | 0.312 | 0.219 | 0.326616659874 | gnomAD-4.0.0 | 2.40068E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62504E-06 | 0 | 0 |
| G/R | rs2052208575 |
None | 0.83 | N | 0.689 | 0.358 | 0.637269506179 | 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 |
| G/R | rs2052208575 |
None | 0.83 | N | 0.689 | 0.358 | 0.637269506179 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 | 0.1415 | likely_benign | 0.1685 | benign | -0.271 | Destabilizing | 0.41 | N | 0.532 | neutral | N | 0.49407185 | None | None | N |
| G/C | 0.2615 | likely_benign | 0.2684 | benign | -0.905 | Destabilizing | 0.993 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/D | 0.1186 | likely_benign | 0.1395 | benign | -0.16 | Destabilizing | 0.006 | N | 0.291 | neutral | None | None | None | None | N |
| G/E | 0.1947 | likely_benign | 0.2252 | benign | -0.292 | Destabilizing | 0.01 | N | 0.312 | neutral | N | 0.47347238 | None | None | N |
| G/F | 0.6288 | likely_pathogenic | 0.6771 | pathogenic | -0.884 | Destabilizing | 0.993 | D | 0.751 | deleterious | None | None | None | None | N |
| G/H | 0.3127 | likely_benign | 0.3337 | benign | -0.464 | Destabilizing | 0.98 | D | 0.696 | prob.neutral | None | None | None | None | N |
| G/I | 0.4901 | ambiguous | 0.5488 | ambiguous | -0.312 | Destabilizing | 0.929 | D | 0.749 | deleterious | None | None | None | None | N |
| G/K | 0.3693 | ambiguous | 0.3953 | ambiguous | -0.652 | Destabilizing | 0.764 | D | 0.666 | neutral | None | None | None | None | N |
| G/L | 0.4858 | ambiguous | 0.5457 | ambiguous | -0.312 | Destabilizing | 0.866 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/M | 0.5429 | ambiguous | 0.5799 | pathogenic | -0.508 | Destabilizing | 0.993 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/N | 0.1492 | likely_benign | 0.1588 | benign | -0.349 | Destabilizing | 0.764 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/P | 0.8376 | likely_pathogenic | 0.8791 | pathogenic | -0.264 | Destabilizing | 0.929 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/Q | 0.2819 | likely_benign | 0.3076 | benign | -0.549 | Destabilizing | 0.764 | D | 0.671 | neutral | None | None | None | None | N |
| G/R | 0.312 | likely_benign | 0.3387 | benign | -0.308 | Destabilizing | 0.83 | D | 0.689 | prob.neutral | N | 0.472004349 | None | None | N |
| G/S | 0.0949 | likely_benign | 0.1011 | benign | -0.586 | Destabilizing | 0.48 | N | 0.628 | neutral | None | None | None | None | N |
| G/T | 0.189 | likely_benign | 0.207 | benign | -0.624 | Destabilizing | 0.866 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/V | 0.3483 | ambiguous | 0.3977 | ambiguous | -0.264 | Destabilizing | 0.83 | D | 0.715 | prob.delet. | N | 0.515658825 | None | None | N |
| G/W | 0.5311 | ambiguous | 0.5467 | ambiguous | -1.051 | Destabilizing | 0.993 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/Y | 0.4551 | ambiguous | 0.5038 | ambiguous | -0.681 | Destabilizing | 0.993 | D | 0.751 | 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.