Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31983 | 96172;96173;96174 | chr2:178544282;178544281;178544280 | chr2:179409009;179409008;179409007 |
| N2AB | 30342 | 91249;91250;91251 | chr2:178544282;178544281;178544280 | chr2:179409009;179409008;179409007 |
| N2A | 29415 | 88468;88469;88470 | chr2:178544282;178544281;178544280 | chr2:179409009;179409008;179409007 |
| N2B | 22918 | 68977;68978;68979 | chr2:178544282;178544281;178544280 | chr2:179409009;179409008;179409007 |
| Novex-1 | 23043 | 69352;69353;69354 | chr2:178544282;178544281;178544280 | chr2:179409009;179409008;179409007 |
| Novex-2 | 23110 | 69553;69554;69555 | chr2:178544282;178544281;178544280 | chr2:179409009;179409008;179409007 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | N | 0.678 | 0.482 | 0.454238212503 | gnomAD-4.0.0 | 3.18269E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71716E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9901 | likely_pathogenic | 0.9915 | pathogenic | -2.082 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| F/C | 0.9179 | likely_pathogenic | 0.9266 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.539073133 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.292 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.052 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| F/G | 0.995 | likely_pathogenic | 0.9951 | pathogenic | -2.526 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/H | 0.9952 | likely_pathogenic | 0.9944 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| F/I | 0.7349 | likely_pathogenic | 0.744 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.493996171 | None | None | N |
| F/K | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| F/L | 0.9664 | likely_pathogenic | 0.9719 | pathogenic | -0.623 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | N | 0.487198996 | None | None | N |
| F/M | 0.9009 | likely_pathogenic | 0.918 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| F/N | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -2.83 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| F/Q | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -2.523 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/R | 0.9976 | likely_pathogenic | 0.9969 | pathogenic | -2.138 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/S | 0.9948 | likely_pathogenic | 0.9946 | pathogenic | -3.123 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.539073133 | None | None | N |
| F/T | 0.994 | likely_pathogenic | 0.9943 | pathogenic | -2.753 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/V | 0.7666 | likely_pathogenic | 0.7823 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.485750057 | None | None | N |
| F/W | 0.9418 | likely_pathogenic | 0.9337 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/Y | 0.7522 | likely_pathogenic | 0.7472 | pathogenic | -0.723 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.501597176 | 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.