Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19630 | 59113;59114;59115 | chr2:178593320;178593319;178593318 | chr2:179458047;179458046;179458045 |
| N2AB | 17989 | 54190;54191;54192 | chr2:178593320;178593319;178593318 | chr2:179458047;179458046;179458045 |
| N2A | 17062 | 51409;51410;51411 | chr2:178593320;178593319;178593318 | chr2:179458047;179458046;179458045 |
| N2B | 10565 | 31918;31919;31920 | chr2:178593320;178593319;178593318 | chr2:179458047;179458046;179458045 |
| Novex-1 | 10690 | 32293;32294;32295 | chr2:178593320;178593319;178593318 | chr2:179458047;179458046;179458045 |
| Novex-2 | 10757 | 32494;32495;32496 | chr2:178593320;178593319;178593318 | chr2:179458047;179458046;179458045 |
| 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/R | None | None | None | N | 0.125 | 0.091 | 0.242244723065 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85953E-06 | 0 | 0 |
| K/T | rs534551882  |
-0.404 | 0.22 | N | 0.6 | 0.142 | 0.303453137403 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/T | rs534551882 |
-0.404 | 0.22 | N | 0.6 | 0.142 | 0.303453137403 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| K/T | rs534551882 |
-0.404 | 0.22 | N | 0.6 | 0.142 | 0.303453137403 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| K/T | rs534551882 |
-0.404 | 0.22 | N | 0.6 | 0.142 | 0.303453137403 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07641E-04 | 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 | 0.5756 | likely_pathogenic | 0.4723 | ambiguous | 0.072 | Stabilizing | 0.272 | N | 0.611 | neutral | None | None | None | None | N |
| K/C | 0.8546 | likely_pathogenic | 0.8176 | pathogenic | -0.274 | Destabilizing | 0.968 | D | 0.751 | deleterious | None | None | None | None | N |
| K/D | 0.7545 | likely_pathogenic | 0.69 | pathogenic | -0.225 | Destabilizing | 0.567 | D | 0.608 | neutral | None | None | None | None | N |
| K/E | 0.475 | ambiguous | 0.3471 | ambiguous | -0.243 | Destabilizing | 0.124 | N | 0.575 | neutral | N | 0.484078227 | None | None | N |
| K/F | 0.9341 | likely_pathogenic | 0.9084 | pathogenic | -0.274 | Destabilizing | 0.726 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/G | 0.6095 | likely_pathogenic | 0.5194 | ambiguous | -0.054 | Destabilizing | 0.272 | N | 0.593 | neutral | None | None | None | None | N |
| K/H | 0.5278 | ambiguous | 0.4753 | ambiguous | -0.205 | Destabilizing | 0.726 | D | 0.651 | neutral | None | None | None | None | N |
| K/I | 0.7115 | likely_pathogenic | 0.6227 | pathogenic | 0.32 | Stabilizing | 0.667 | D | 0.712 | prob.delet. | N | 0.471921308 | None | None | N |
| K/L | 0.6986 | likely_pathogenic | 0.6107 | pathogenic | 0.32 | Stabilizing | 0.272 | N | 0.593 | neutral | None | None | None | None | N |
| K/M | 0.5796 | likely_pathogenic | 0.4655 | ambiguous | -0.002 | Destabilizing | 0.968 | D | 0.644 | neutral | None | None | None | None | N |
| K/N | 0.7313 | likely_pathogenic | 0.6318 | pathogenic | 0.2 | Stabilizing | 0.22 | N | 0.559 | neutral | N | 0.509936676 | None | None | N |
| K/P | 0.7538 | likely_pathogenic | 0.6954 | pathogenic | 0.26 | Stabilizing | 0.726 | D | 0.645 | neutral | None | None | None | None | N |
| K/Q | 0.3062 | likely_benign | 0.2486 | benign | 0.041 | Stabilizing | 0.124 | N | 0.585 | neutral | N | 0.493564501 | None | None | N |
| K/R | 0.0728 | likely_benign | 0.0724 | benign | -0.03 | Destabilizing | None | N | 0.125 | neutral | N | 0.448080141 | None | None | N |
| K/S | 0.6589 | likely_pathogenic | 0.5624 | ambiguous | -0.159 | Destabilizing | 0.272 | N | 0.531 | neutral | None | None | None | None | N |
| K/T | 0.3987 | ambiguous | 0.2988 | benign | -0.065 | Destabilizing | 0.22 | N | 0.6 | neutral | N | 0.439191299 | None | None | N |
| K/V | 0.6232 | likely_pathogenic | 0.5327 | ambiguous | 0.26 | Stabilizing | 0.567 | D | 0.61 | neutral | None | None | None | None | N |
| K/W | 0.8503 | likely_pathogenic | 0.8114 | pathogenic | -0.38 | Destabilizing | 0.968 | D | 0.763 | deleterious | None | None | None | None | N |
| K/Y | 0.825 | likely_pathogenic | 0.7841 | pathogenic | -0.023 | Destabilizing | 0.726 | D | 0.711 | 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.