Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29067 | 87424;87425;87426 | chr2:178558155;178558154;178558153 | chr2:179422882;179422881;179422880 |
| N2AB | 27426 | 82501;82502;82503 | chr2:178558155;178558154;178558153 | chr2:179422882;179422881;179422880 |
| N2A | 26499 | 79720;79721;79722 | chr2:178558155;178558154;178558153 | chr2:179422882;179422881;179422880 |
| N2B | 20002 | 60229;60230;60231 | chr2:178558155;178558154;178558153 | chr2:179422882;179422881;179422880 |
| Novex-1 | 20127 | 60604;60605;60606 | chr2:178558155;178558154;178558153 | chr2:179422882;179422881;179422880 |
| Novex-2 | 20194 | 60805;60806;60807 | chr2:178558155;178558154;178558153 | chr2:179422882;179422881;179422880 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs878925055  |
-0.211 | 1.0 | N | 0.735 | 0.474 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs878925055 |
-0.211 | 1.0 | N | 0.735 | 0.474 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs878925055 |
-0.211 | 1.0 | N | 0.735 | 0.474 | None | gnomAD-4.0.0 | 1.73514E-05 | None | None | None | None | N | None | 2.66909E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.11892E-05 | 0 | 1.60102E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1414 | likely_benign | 0.1384 | benign | -1.105 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.488526712 | None | None | N |
| P/C | 0.6626 | likely_pathogenic | 0.6364 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/D | 0.7732 | likely_pathogenic | 0.755 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| P/E | 0.5914 | likely_pathogenic | 0.5779 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/F | 0.6745 | likely_pathogenic | 0.6537 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| P/G | 0.5318 | ambiguous | 0.5067 | ambiguous | -1.339 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| P/H | 0.385 | ambiguous | 0.3495 | ambiguous | -0.914 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/I | 0.4435 | ambiguous | 0.4331 | ambiguous | -0.6 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/K | 0.5049 | ambiguous | 0.4757 | ambiguous | -0.99 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| P/L | 0.1964 | likely_benign | 0.1903 | benign | -0.6 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.501403955 | None | None | N |
| P/M | 0.4877 | ambiguous | 0.4758 | ambiguous | -0.412 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| P/N | 0.5866 | likely_pathogenic | 0.5677 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| P/Q | 0.318 | likely_benign | 0.2994 | benign | -0.9 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.532824684 | None | None | N |
| P/R | 0.336 | likely_benign | 0.3099 | benign | -0.409 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.526610787 | None | None | N |
| P/S | 0.2628 | likely_benign | 0.2507 | benign | -1.083 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.529843094 | None | None | N |
| P/T | 0.2166 | likely_benign | 0.2039 | benign | -1.052 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.482117477 | None | None | N |
| P/V | 0.3276 | likely_benign | 0.3202 | benign | -0.733 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| P/W | 0.8654 | likely_pathogenic | 0.8413 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| P/Y | 0.7047 | likely_pathogenic | 0.6663 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.749 | 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.