Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19011 | 57256;57257;57258 | chr2:178598586;178598585;178598584 | chr2:179463313;179463312;179463311 |
| N2AB | 17370 | 52333;52334;52335 | chr2:178598586;178598585;178598584 | chr2:179463313;179463312;179463311 |
| N2A | 16443 | 49552;49553;49554 | chr2:178598586;178598585;178598584 | chr2:179463313;179463312;179463311 |
| N2B | 9946 | 30061;30062;30063 | chr2:178598586;178598585;178598584 | chr2:179463313;179463312;179463311 |
| Novex-1 | 10071 | 30436;30437;30438 | chr2:178598586;178598585;178598584 | chr2:179463313;179463312;179463311 |
| Novex-2 | 10138 | 30637;30638;30639 | chr2:178598586;178598585;178598584 | chr2:179463313;179463312;179463311 |
| 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/S | rs1436800817  |
-1.665 | 0.998 | N | 0.769 | 0.415 | 0.37479162749 | gnomAD-2.1.1 | 1.59398E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.59336E-04 | 9.19118E-04 |
| P/S | rs1436800817 |
-1.665 | 0.998 | N | 0.769 | 0.415 | 0.37479162749 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| P/S | rs1436800817 |
-1.665 | 0.998 | N | 0.769 | 0.415 | 0.37479162749 | gnomAD-4.0.0 | 6.44629E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19968E-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 | 0.0802 | likely_benign | 0.09 | benign | -1.588 | Destabilizing | 0.767 | D | 0.409 | neutral | N | 0.488334827 | None | None | N |
| P/C | 0.5102 | ambiguous | 0.4846 | ambiguous | -1.056 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/D | 0.7962 | likely_pathogenic | 0.7996 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/E | 0.4433 | ambiguous | 0.4487 | ambiguous | -1.527 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/F | 0.5327 | ambiguous | 0.5276 | ambiguous | -1.032 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/G | 0.5256 | ambiguous | 0.5186 | ambiguous | -1.977 | Destabilizing | 0.997 | D | 0.762 | deleterious | None | None | None | None | N |
| P/H | 0.2764 | likely_benign | 0.2672 | benign | -1.349 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.497913873 | None | None | N |
| P/I | 0.2215 | likely_benign | 0.2473 | benign | -0.57 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/K | 0.3707 | ambiguous | 0.3212 | benign | -1.352 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/L | 0.1112 | likely_benign | 0.1142 | benign | -0.57 | Destabilizing | 0.999 | D | 0.827 | deleterious | N | 0.502673586 | None | None | N |
| P/M | 0.2676 | likely_benign | 0.2956 | benign | -0.547 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.563 | ambiguous | 0.5892 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/Q | 0.1898 | likely_benign | 0.1883 | benign | -1.425 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/R | 0.2767 | likely_benign | 0.2296 | benign | -0.947 | Destabilizing | 0.999 | D | 0.869 | deleterious | D | 0.523719624 | None | None | N |
| P/S | 0.191 | likely_benign | 0.1996 | benign | -1.946 | Destabilizing | 0.998 | D | 0.769 | deleterious | N | 0.479947748 | None | None | N |
| P/T | 0.1408 | likely_benign | 0.1555 | benign | -1.711 | Destabilizing | 0.999 | D | 0.785 | deleterious | N | 0.495836731 | None | None | N |
| P/V | 0.1531 | likely_benign | 0.1703 | benign | -0.879 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| P/W | 0.8122 | likely_pathogenic | 0.7937 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Y | 0.5323 | ambiguous | 0.5242 | ambiguous | -0.961 | Destabilizing | 1.0 | D | 0.869 | 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.