Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20412 | 61459;61460;61461 | chr2:178590491;178590490;178590489 | chr2:179455218;179455217;179455216 |
| N2AB | 18771 | 56536;56537;56538 | chr2:178590491;178590490;178590489 | chr2:179455218;179455217;179455216 |
| N2A | 17844 | 53755;53756;53757 | chr2:178590491;178590490;178590489 | chr2:179455218;179455217;179455216 |
| N2B | 11347 | 34264;34265;34266 | chr2:178590491;178590490;178590489 | chr2:179455218;179455217;179455216 |
| Novex-1 | 11472 | 34639;34640;34641 | chr2:178590491;178590490;178590489 | chr2:179455218;179455217;179455216 |
| Novex-2 | 11539 | 34840;34841;34842 | chr2:178590491;178590490;178590489 | chr2:179455218;179455217;179455216 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs1465889294  |
-0.493 | 0.999 | N | 0.604 | 0.349 | 0.241664281697 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs1465889294 |
-0.493 | 0.999 | N | 0.604 | 0.349 | 0.241664281697 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs1465889294 |
-0.493 | 0.999 | N | 0.604 | 0.349 | 0.241664281697 | gnomAD-4.0.0 | 2.5642E-06 | None | None | None | None | N | None | 0 | 3.39248E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5076 | ambiguous | 0.4406 | ambiguous | -0.556 | Destabilizing | 0.998 | D | 0.543 | neutral | None | None | None | None | N |
| K/C | 0.7896 | likely_pathogenic | 0.7878 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| K/D | 0.7839 | likely_pathogenic | 0.7246 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| K/E | 0.27 | likely_benign | 0.2096 | benign | -0.088 | Destabilizing | 0.996 | D | 0.458 | neutral | N | 0.463625597 | None | None | N |
| K/F | 0.7593 | likely_pathogenic | 0.7263 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| K/G | 0.6511 | likely_pathogenic | 0.5962 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| K/H | 0.4362 | ambiguous | 0.4232 | ambiguous | -1.344 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| K/I | 0.2972 | likely_benign | 0.2498 | benign | 0.385 | Stabilizing | 1.0 | D | 0.779 | deleterious | D | 0.523215405 | None | None | N |
| K/L | 0.3026 | likely_benign | 0.2621 | benign | 0.385 | Stabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| K/M | 0.224 | likely_benign | 0.1922 | benign | 0.301 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| K/N | 0.5651 | likely_pathogenic | 0.4899 | ambiguous | -0.32 | Destabilizing | 0.999 | D | 0.624 | neutral | D | 0.524156767 | None | None | N |
| K/P | 0.7282 | likely_pathogenic | 0.6504 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| K/Q | 0.153 | likely_benign | 0.1387 | benign | -0.37 | Destabilizing | 0.999 | D | 0.604 | neutral | N | 0.465328397 | None | None | N |
| K/R | 0.1111 | likely_benign | 0.1115 | benign | -0.647 | Destabilizing | 0.884 | D | 0.245 | neutral | N | 0.461377512 | None | None | N |
| K/S | 0.6216 | likely_pathogenic | 0.5548 | ambiguous | -0.903 | Destabilizing | 0.998 | D | 0.555 | neutral | None | None | None | None | N |
| K/T | 0.2681 | likely_benign | 0.2184 | benign | -0.595 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.4887934 | None | None | N |
| K/V | 0.3136 | likely_benign | 0.2718 | benign | 0.101 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| K/W | 0.8083 | likely_pathogenic | 0.8085 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| K/Y | 0.6387 | likely_pathogenic | 0.6049 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | 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.