Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26810 | 80653;80654;80655 | chr2:178565704;178565703;178565702 | chr2:179430431;179430430;179430429 |
| N2AB | 25169 | 75730;75731;75732 | chr2:178565704;178565703;178565702 | chr2:179430431;179430430;179430429 |
| N2A | 24242 | 72949;72950;72951 | chr2:178565704;178565703;178565702 | chr2:179430431;179430430;179430429 |
| N2B | 17745 | 53458;53459;53460 | chr2:178565704;178565703;178565702 | chr2:179430431;179430430;179430429 |
| Novex-1 | 17870 | 53833;53834;53835 | chr2:178565704;178565703;178565702 | chr2:179430431;179430430;179430429 |
| Novex-2 | 17937 | 54034;54035;54036 | chr2:178565704;178565703;178565702 | chr2:179430431;179430430;179430429 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs771880739  |
-0.801 | 0.997 | N | 0.712 | 0.384 | 0.296679040009 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11396E-04 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs771880739 |
-0.801 | 0.997 | N | 0.712 | 0.384 | 0.296679040009 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs771880739 |
-0.801 | 0.997 | N | 0.712 | 0.384 | 0.296679040009 | gnomAD-4.0.0 | 2.56272E-06 | None | None | None | None | N | None | 1.69165E-05 | 0 | None | 0 | 2.4253E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | None | None | 1.0 | N | 0.817 | 0.484 | 0.362960570912 | gnomAD-4.0.0 | 1.5916E-06 | None | None | None | None | N | None | 5.66059E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.21 | likely_benign | 0.174 | benign | -0.623 | Destabilizing | 0.997 | D | 0.616 | neutral | None | None | None | None | N |
| S/C | 0.1745 | likely_benign | 0.1589 | benign | -0.508 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.472044029 | None | None | N |
| S/D | 0.9241 | likely_pathogenic | 0.9236 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| S/E | 0.9436 | likely_pathogenic | 0.9465 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| S/F | 0.6958 | likely_pathogenic | 0.6462 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| S/G | 0.3283 | likely_benign | 0.304 | benign | -0.833 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.516398502 | None | None | N |
| S/H | 0.838 | likely_pathogenic | 0.8451 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| S/I | 0.7233 | likely_pathogenic | 0.726 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.496780875 | None | None | N |
| S/K | 0.9843 | likely_pathogenic | 0.9871 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| S/L | 0.3464 | ambiguous | 0.3241 | benign | -0.178 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| S/M | 0.5446 | ambiguous | 0.5296 | ambiguous | 0.262 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| S/N | 0.6029 | likely_pathogenic | 0.6236 | pathogenic | -0.749 | Destabilizing | 0.997 | D | 0.712 | prob.delet. | N | 0.485259985 | None | None | N |
| S/P | 0.9879 | likely_pathogenic | 0.9915 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| S/Q | 0.9011 | likely_pathogenic | 0.9079 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| S/R | 0.9725 | likely_pathogenic | 0.9742 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.484548742 | None | None | N |
| S/T | 0.2456 | likely_benign | 0.2577 | benign | -0.735 | Destabilizing | 0.981 | D | 0.625 | neutral | N | 0.471510597 | None | None | N |
| S/V | 0.6215 | likely_pathogenic | 0.6088 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| S/W | 0.843 | likely_pathogenic | 0.8307 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| S/Y | 0.6917 | likely_pathogenic | 0.6643 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.834 | 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.