Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35293 | 106102;106103;106104 | chr2:178530738;178530737;178530736 | chr2:179395465;179395464;179395463 |
| N2AB | 33652 | 101179;101180;101181 | chr2:178530738;178530737;178530736 | chr2:179395465;179395464;179395463 |
| N2A | 32725 | 98398;98399;98400 | chr2:178530738;178530737;178530736 | chr2:179395465;179395464;179395463 |
| N2B | 26228 | 78907;78908;78909 | chr2:178530738;178530737;178530736 | chr2:179395465;179395464;179395463 |
| Novex-1 | 26353 | 79282;79283;79284 | chr2:178530738;178530737;178530736 | chr2:179395465;179395464;179395463 |
| Novex-2 | 26420 | 79483;79484;79485 | chr2:178530738;178530737;178530736 | chr2:179395465;179395464;179395463 |
| 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/N | None | None | 0.951 | N | 0.509 | 0.142 | 0.136095386433 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| K/R | None | None | 0.975 | N | 0.5 | 0.131 | 0.177238962908 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 | 0.4299 | ambiguous | 0.4516 | ambiguous | -0.132 | Destabilizing | 0.841 | D | 0.549 | neutral | None | None | None | None | N |
| K/C | 0.7856 | likely_pathogenic | 0.8064 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/D | 0.6455 | likely_pathogenic | 0.6445 | pathogenic | 0.278 | Stabilizing | 0.989 | D | 0.561 | neutral | None | None | None | None | N |
| K/E | 0.1896 | likely_benign | 0.1872 | benign | 0.328 | Stabilizing | 0.951 | D | 0.511 | neutral | N | 0.455850609 | None | None | N |
| K/F | 0.8032 | likely_pathogenic | 0.8117 | pathogenic | -0.129 | Destabilizing | 0.998 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/G | 0.5922 | likely_pathogenic | 0.6062 | pathogenic | -0.4 | Destabilizing | 0.962 | D | 0.528 | neutral | None | None | None | None | N |
| K/H | 0.3239 | likely_benign | 0.3346 | benign | -0.659 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | N |
| K/I | 0.3853 | ambiguous | 0.3947 | ambiguous | 0.511 | Stabilizing | 0.985 | D | 0.7 | prob.neutral | N | 0.501759044 | None | None | N |
| K/L | 0.3999 | ambiguous | 0.4136 | ambiguous | 0.511 | Stabilizing | 0.962 | D | 0.525 | neutral | None | None | None | None | N |
| K/M | 0.2847 | likely_benign | 0.2934 | benign | 0.233 | Stabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| K/N | 0.4226 | ambiguous | 0.4259 | ambiguous | 0.089 | Stabilizing | 0.951 | D | 0.509 | neutral | N | 0.442092585 | None | None | N |
| K/P | 0.893 | likely_pathogenic | 0.8964 | pathogenic | 0.327 | Stabilizing | 0.995 | D | 0.621 | neutral | None | None | None | None | N |
| K/Q | 0.1461 | likely_benign | 0.148 | benign | -0.023 | Destabilizing | 0.993 | D | 0.552 | neutral | N | 0.453503738 | None | None | N |
| K/R | 0.1015 | likely_benign | 0.1043 | benign | -0.141 | Destabilizing | 0.975 | D | 0.5 | neutral | N | 0.434648618 | None | None | N |
| K/S | 0.4765 | ambiguous | 0.4851 | ambiguous | -0.499 | Destabilizing | 0.5 | N | 0.229 | neutral | None | None | None | None | N |
| K/T | 0.2002 | likely_benign | 0.2075 | benign | -0.269 | Destabilizing | 0.206 | N | 0.257 | neutral | N | 0.47799675 | None | None | N |
| K/V | 0.3842 | ambiguous | 0.3953 | ambiguous | 0.327 | Stabilizing | 0.989 | D | 0.553 | neutral | None | None | None | None | N |
| K/W | 0.8416 | likely_pathogenic | 0.8513 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/Y | 0.6934 | likely_pathogenic | 0.6968 | pathogenic | 0.249 | Stabilizing | 0.998 | D | 0.669 | neutral | 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.