Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14216 | 42871;42872;42873 | chr2:178633853;178633852;178633851 | chr2:179498580;179498579;179498578 |
| N2AB | 12575 | 37948;37949;37950 | chr2:178633853;178633852;178633851 | chr2:179498580;179498579;179498578 |
| N2A | 11648 | 35167;35168;35169 | chr2:178633853;178633852;178633851 | chr2:179498580;179498579;179498578 |
| N2B | 5151 | 15676;15677;15678 | chr2:178633853;178633852;178633851 | chr2:179498580;179498579;179498578 |
| Novex-1 | 5276 | 16051;16052;16053 | chr2:178633853;178633852;178633851 | chr2:179498580;179498579;179498578 |
| Novex-2 | 5343 | 16252;16253;16254 | chr2:178633853;178633852;178633851 | chr2:179498580;179498579;179498578 |
| 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 | rs1450576387  |
0.219 | 0.999 | N | 0.713 | 0.24 | 0.201204373187 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| K/Q | rs1450576387 |
0.219 | 0.999 | N | 0.713 | 0.24 | 0.201204373187 | gnomAD-4.0.0 | 2.05315E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69881E-06 | 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 | 0.5333 | ambiguous | 0.5654 | pathogenic | -0.01 | Destabilizing | 0.996 | D | 0.637 | neutral | None | None | None | None | N |
| K/C | 0.8434 | likely_pathogenic | 0.8606 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| K/D | 0.5552 | ambiguous | 0.6243 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| K/E | 0.2744 | likely_benign | 0.2877 | benign | -0.142 | Destabilizing | 0.998 | D | 0.639 | neutral | N | 0.435870801 | None | None | N |
| K/F | 0.8939 | likely_pathogenic | 0.9103 | pathogenic | -0.233 | Destabilizing | 0.998 | D | 0.764 | deleterious | None | None | None | None | N |
| K/G | 0.3136 | likely_benign | 0.3719 | ambiguous | -0.197 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| K/H | 0.4744 | ambiguous | 0.4861 | ambiguous | -0.305 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/I | 0.8082 | likely_pathogenic | 0.7869 | pathogenic | 0.408 | Stabilizing | 0.995 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/L | 0.5797 | likely_pathogenic | 0.5989 | pathogenic | 0.408 | Stabilizing | 0.269 | N | 0.498 | neutral | None | None | None | None | N |
| K/M | 0.4669 | ambiguous | 0.4651 | ambiguous | -0.073 | Destabilizing | 0.997 | D | 0.7 | prob.neutral | N | 0.447939648 | None | None | N |
| K/N | 0.4714 | ambiguous | 0.5037 | ambiguous | -0.108 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | N | 0.446437725 | None | None | N |
| K/P | 0.8288 | likely_pathogenic | 0.8356 | pathogenic | 0.295 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/Q | 0.2067 | likely_benign | 0.2135 | benign | -0.177 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | N | 0.435642838 | None | None | N |
| K/R | 0.1116 | likely_benign | 0.1019 | benign | -0.095 | Destabilizing | 0.998 | D | 0.597 | neutral | N | 0.449840065 | None | None | N |
| K/S | 0.5333 | ambiguous | 0.5707 | pathogenic | -0.499 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| K/T | 0.4934 | ambiguous | 0.4856 | ambiguous | -0.322 | Destabilizing | 0.998 | D | 0.667 | neutral | N | 0.450884688 | None | None | N |
| K/V | 0.754 | likely_pathogenic | 0.7448 | pathogenic | 0.295 | Stabilizing | 0.983 | D | 0.648 | neutral | None | None | None | None | N |
| K/W | 0.8873 | likely_pathogenic | 0.8904 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| K/Y | 0.7746 | likely_pathogenic | 0.8033 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.742 | 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.