Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17767 | 53524;53525;53526 | chr2:178607303;178607302;178607301 | chr2:179472030;179472029;179472028 |
| N2AB | 16126 | 48601;48602;48603 | chr2:178607303;178607302;178607301 | chr2:179472030;179472029;179472028 |
| N2A | 15199 | 45820;45821;45822 | chr2:178607303;178607302;178607301 | chr2:179472030;179472029;179472028 |
| N2B | 8702 | 26329;26330;26331 | chr2:178607303;178607302;178607301 | chr2:179472030;179472029;179472028 |
| Novex-1 | 8827 | 26704;26705;26706 | chr2:178607303;178607302;178607301 | chr2:179472030;179472029;179472028 |
| Novex-2 | 8894 | 26905;26906;26907 | chr2:178607303;178607302;178607301 | chr2:179472030;179472029;179472028 |
| 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 | rs1465233091  |
None | 1.0 | N | 0.795 | 0.46 | 0.749854518339 | gnomAD-4.0.0 | 2.05427E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69957E-06 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.754 | 0.378 | 0.439551795455 | gnomAD-4.0.0 | 6.84757E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99855E-07 | 0 | 0 |
| P/T | rs1243704778 |
None | 1.0 | N | 0.754 | 0.457 | 0.547893116657 | 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 |
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 | 0.1589 | likely_benign | 0.1333 | benign | -1.342 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.491329486 | None | None | N |
| P/C | 0.7806 | likely_pathogenic | 0.702 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/D | 0.841 | likely_pathogenic | 0.7717 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/E | 0.5585 | ambiguous | 0.4823 | ambiguous | -1.255 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| P/F | 0.9074 | likely_pathogenic | 0.8064 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/G | 0.7101 | likely_pathogenic | 0.6571 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/H | 0.5709 | likely_pathogenic | 0.3929 | ambiguous | -1.176 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/I | 0.7746 | likely_pathogenic | 0.6404 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/K | 0.5609 | ambiguous | 0.4804 | ambiguous | -1.153 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/L | 0.4834 | ambiguous | 0.3871 | ambiguous | -0.729 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.511514087 | None | None | N |
| P/M | 0.6809 | likely_pathogenic | 0.5731 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/N | 0.7694 | likely_pathogenic | 0.6855 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/Q | 0.4016 | ambiguous | 0.3105 | benign | -1.073 | Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.511514087 | None | None | N |
| P/R | 0.4218 | ambiguous | 0.3059 | benign | -0.569 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.494588374 | None | None | N |
| P/S | 0.4201 | ambiguous | 0.3188 | benign | -1.275 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.468228459 | None | None | N |
| P/T | 0.4444 | ambiguous | 0.3145 | benign | -1.221 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.512021066 | None | None | N |
| P/V | 0.5935 | likely_pathogenic | 0.4605 | ambiguous | -0.899 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/W | 0.9592 | likely_pathogenic | 0.8999 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/Y | 0.8932 | likely_pathogenic | 0.7746 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.82 | 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.