Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19734 | 59425;59426;59427 | chr2:178592919;178592918;178592917 | chr2:179457646;179457645;179457644 |
| N2AB | 18093 | 54502;54503;54504 | chr2:178592919;178592918;178592917 | chr2:179457646;179457645;179457644 |
| N2A | 17166 | 51721;51722;51723 | chr2:178592919;178592918;178592917 | chr2:179457646;179457645;179457644 |
| N2B | 10669 | 32230;32231;32232 | chr2:178592919;178592918;178592917 | chr2:179457646;179457645;179457644 |
| Novex-1 | 10794 | 32605;32606;32607 | chr2:178592919;178592918;178592917 | chr2:179457646;179457645;179457644 |
| Novex-2 | 10861 | 32806;32807;32808 | chr2:178592919;178592918;178592917 | chr2:179457646;179457645;179457644 |
| 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/A | rs563889482  |
-0.124 | 0.117 | N | 0.375 | 0.194 | 0.18381946 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs563889482 |
-0.124 | 0.117 | N | 0.375 | 0.194 | 0.18381946 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94326E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs563889482 |
-0.124 | 0.117 | N | 0.375 | 0.194 | 0.18381946 | gnomAD-4.0.0 | 6.58181E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.94326E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs563889482 |
-0.004 | 0.987 | N | 0.604 | 0.245 | 0.26866075 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| P/S | rs563889482 |
-0.004 | 0.987 | N | 0.604 | 0.245 | 0.26866075 | gnomAD-4.0.0 | 3.42142E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59835E-06 | 1.15939E-05 | 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 | 0.0768 | likely_benign | 0.0928 | benign | -1.669 | Destabilizing | 0.117 | N | 0.375 | neutral | N | 0.5019333 | None | None | I |
| P/C | 0.7004 | likely_pathogenic | 0.7617 | pathogenic | -1.617 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| P/D | 0.8821 | likely_pathogenic | 0.8857 | pathogenic | -2.449 | Highly Destabilizing | 0.998 | D | 0.667 | neutral | None | None | None | None | I |
| P/E | 0.6482 | likely_pathogenic | 0.6467 | pathogenic | -2.427 | Highly Destabilizing | 0.995 | D | 0.667 | neutral | None | None | None | None | I |
| P/F | 0.788 | likely_pathogenic | 0.8334 | pathogenic | -1.394 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| P/G | 0.5082 | ambiguous | 0.5983 | pathogenic | -1.982 | Destabilizing | 0.966 | D | 0.578 | neutral | None | None | None | None | I |
| P/H | 0.5829 | likely_pathogenic | 0.6098 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.50547737 | None | None | I |
| P/I | 0.4497 | ambiguous | 0.4592 | ambiguous | -0.89 | Destabilizing | 0.995 | D | 0.716 | prob.delet. | None | None | None | None | I |
| P/K | 0.6417 | likely_pathogenic | 0.6328 | pathogenic | -1.383 | Destabilizing | 0.995 | D | 0.675 | prob.neutral | None | None | None | None | I |
| P/L | 0.2833 | likely_benign | 0.27 | benign | -0.89 | Destabilizing | 0.993 | D | 0.675 | neutral | N | 0.52138585 | None | None | I |
| P/M | 0.539 | ambiguous | 0.5545 | ambiguous | -0.866 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| P/N | 0.7886 | likely_pathogenic | 0.815 | pathogenic | -1.428 | Destabilizing | 0.998 | D | 0.699 | prob.neutral | None | None | None | None | I |
| P/Q | 0.4701 | ambiguous | 0.4884 | ambiguous | -1.652 | Destabilizing | 0.998 | D | 0.678 | prob.neutral | None | None | None | None | I |
| P/R | 0.4986 | ambiguous | 0.4982 | ambiguous | -0.831 | Destabilizing | 0.997 | D | 0.697 | prob.neutral | N | 0.4660095 | None | None | I |
| P/S | 0.2494 | likely_benign | 0.2885 | benign | -1.889 | Destabilizing | 0.987 | D | 0.604 | neutral | N | 0.50453085 | None | None | I |
| P/T | 0.2068 | likely_benign | 0.2137 | benign | -1.764 | Destabilizing | 0.993 | D | 0.63 | neutral | N | 0.5125557 | None | None | I |
| P/V | 0.2678 | likely_benign | 0.2789 | benign | -1.119 | Destabilizing | 0.99 | D | 0.611 | neutral | None | None | None | None | I |
| P/W | 0.868 | likely_pathogenic | 0.8977 | pathogenic | -1.61 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| P/Y | 0.758 | likely_pathogenic | 0.7954 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
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.