Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17570 | 52933;52934;52935 | chr2:178608079;178608078;178608077 | chr2:179472806;179472805;179472804 |
| N2AB | 15929 | 48010;48011;48012 | chr2:178608079;178608078;178608077 | chr2:179472806;179472805;179472804 |
| N2A | 15002 | 45229;45230;45231 | chr2:178608079;178608078;178608077 | chr2:179472806;179472805;179472804 |
| N2B | 8505 | 25738;25739;25740 | chr2:178608079;178608078;178608077 | chr2:179472806;179472805;179472804 |
| Novex-1 | 8630 | 26113;26114;26115 | chr2:178608079;178608078;178608077 | chr2:179472806;179472805;179472804 |
| Novex-2 | 8697 | 26314;26315;26316 | chr2:178608079;178608078;178608077 | chr2:179472806;179472805;179472804 |
| 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/H | None | None | 1.0 | N | 0.817 | 0.403 | 0.424789488895 | gnomAD-4.0.0 | 1.59588E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43472E-05 | 0 |
| P/L | rs2055350149  |
None | 1.0 | N | 0.832 | 0.401 | 0.504541157375 | gnomAD-4.0.0 | 3.19178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59816E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1099 | likely_benign | 0.1085 | benign | -0.68 | Destabilizing | 0.999 | D | 0.783 | deleterious | N | 0.470135838 | None | None | N |
| P/C | 0.5969 | likely_pathogenic | 0.556 | ambiguous | -0.707 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/D | 0.8345 | likely_pathogenic | 0.8577 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/E | 0.4798 | ambiguous | 0.4924 | ambiguous | -0.25 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/F | 0.6873 | likely_pathogenic | 0.6656 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/G | 0.6529 | likely_pathogenic | 0.653 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/H | 0.357 | ambiguous | 0.3521 | ambiguous | -0.378 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.492802905 | None | None | N |
| P/I | 0.331 | likely_benign | 0.3312 | benign | -0.448 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/K | 0.2841 | likely_benign | 0.3024 | benign | -0.355 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/L | 0.1495 | likely_benign | 0.1534 | benign | -0.448 | Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.458338687 | None | None | N |
| P/M | 0.4127 | ambiguous | 0.4131 | ambiguous | -0.329 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/N | 0.707 | likely_pathogenic | 0.7147 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/Q | 0.231 | likely_benign | 0.2322 | benign | -0.392 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/R | 0.2019 | likely_benign | 0.2061 | benign | 0.129 | Stabilizing | 1.0 | D | 0.813 | deleterious | N | 0.464783922 | None | None | N |
| P/S | 0.2737 | likely_benign | 0.2758 | benign | -0.578 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.492295926 | None | None | N |
| P/T | 0.2107 | likely_benign | 0.2134 | benign | -0.582 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.491788946 | None | None | N |
| P/V | 0.2165 | likely_benign | 0.2219 | benign | -0.491 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/W | 0.8742 | likely_pathogenic | 0.8713 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/Y | 0.6588 | likely_pathogenic | 0.6554 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.829 | 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.