Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30054 | 90385;90386;90387 | chr2:178552740;178552739;178552738 | chr2:179417467;179417466;179417465 |
| N2AB | 28413 | 85462;85463;85464 | chr2:178552740;178552739;178552738 | chr2:179417467;179417466;179417465 |
| N2A | 27486 | 82681;82682;82683 | chr2:178552740;178552739;178552738 | chr2:179417467;179417466;179417465 |
| N2B | 20989 | 63190;63191;63192 | chr2:178552740;178552739;178552738 | chr2:179417467;179417466;179417465 |
| Novex-1 | 21114 | 63565;63566;63567 | chr2:178552740;178552739;178552738 | chr2:179417467;179417466;179417465 |
| Novex-2 | 21181 | 63766;63767;63768 | chr2:178552740;178552739;178552738 | chr2:179417467;179417466;179417465 |
| 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 | rs767891763  |
-0.759 | 1.0 | D | 0.903 | 0.571 | 0.740784487212 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| P/L | rs767891763 |
-0.759 | 1.0 | D | 0.903 | 0.571 | 0.740784487212 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs767891763 |
-0.759 | 1.0 | D | 0.903 | 0.571 | 0.740784487212 | gnomAD-4.0.0 | 1.9209E-05 | None | None | None | None | N | None | 1.33454E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54271E-05 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.893 | 0.622 | 0.563173181975 | gnomAD-4.0.0 | 6.84169E-07 | None | None | None | None | N | None | 0 | 2.23604E-05 | None | 0 | 0 | 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 | 0.8915 | likely_pathogenic | 0.808 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.517970365 | None | None | N |
| P/C | 0.9926 | likely_pathogenic | 0.9862 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/D | 0.9975 | likely_pathogenic | 0.996 | pathogenic | -2.457 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/E | 0.9956 | likely_pathogenic | 0.9931 | pathogenic | -2.368 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/G | 0.9832 | likely_pathogenic | 0.9701 | pathogenic | -2.529 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/H | 0.9958 | likely_pathogenic | 0.9919 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.541861518 | None | None | N |
| P/I | 0.9961 | likely_pathogenic | 0.9932 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/K | 0.9981 | likely_pathogenic | 0.997 | pathogenic | -1.867 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/L | 0.9797 | likely_pathogenic | 0.9647 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.551443397 | None | None | N |
| P/M | 0.9952 | likely_pathogenic | 0.9906 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/N | 0.996 | likely_pathogenic | 0.9933 | pathogenic | -1.816 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/Q | 0.9943 | likely_pathogenic | 0.9894 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/R | 0.9945 | likely_pathogenic | 0.9915 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.526466288 | None | None | N |
| P/S | 0.9746 | likely_pathogenic | 0.9456 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.503398056 | None | None | N |
| P/T | 0.968 | likely_pathogenic | 0.9326 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.525959309 | None | None | N |
| P/V | 0.9863 | likely_pathogenic | 0.9748 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9993 | pathogenic | -1.826 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.897 | 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.