Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33690 | 101293;101294;101295 | chr2:178535547;178535546;178535545 | chr2:179400274;179400273;179400272 |
| N2AB | 32049 | 96370;96371;96372 | chr2:178535547;178535546;178535545 | chr2:179400274;179400273;179400272 |
| N2A | 31122 | 93589;93590;93591 | chr2:178535547;178535546;178535545 | chr2:179400274;179400273;179400272 |
| N2B | 24625 | 74098;74099;74100 | chr2:178535547;178535546;178535545 | chr2:179400274;179400273;179400272 |
| Novex-1 | 24750 | 74473;74474;74475 | chr2:178535547;178535546;178535545 | chr2:179400274;179400273;179400272 |
| Novex-2 | 24817 | 74674;74675;74676 | chr2:178535547;178535546;178535545 | chr2:179400274;179400273;179400272 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | None | None | 1.0 | D | 0.745 | 0.781 | 0.729836406417 | gnomAD-4.0.0 | 6.84201E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99447E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8701 | likely_pathogenic | 0.8551 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.60758157 | None | None | N |
| P/C | 0.985 | likely_pathogenic | 0.9809 | pathogenic | -2.146 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -3.357 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/E | 0.9992 | likely_pathogenic | 0.9981 | pathogenic | -3.284 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/G | 0.9959 | likely_pathogenic | 0.9932 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/H | 0.9992 | likely_pathogenic | 0.9982 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.649744456 | None | None | N |
| P/I | 0.9911 | likely_pathogenic | 0.9836 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/K | 0.9996 | likely_pathogenic | 0.9989 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/L | 0.9731 | likely_pathogenic | 0.9596 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.606774353 | None | None | N |
| P/M | 0.9971 | likely_pathogenic | 0.9949 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/N | 0.9996 | likely_pathogenic | 0.9991 | pathogenic | -1.918 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/Q | 0.9986 | likely_pathogenic | 0.9968 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/R | 0.9982 | likely_pathogenic | 0.9946 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.633725095 | None | None | N |
| P/S | 0.9906 | likely_pathogenic | 0.9848 | pathogenic | -2.253 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.623802736 | None | None | N |
| P/T | 0.9846 | likely_pathogenic | 0.9733 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.62400454 | None | None | N |
| P/V | 0.9668 | likely_pathogenic | 0.9503 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.839 | 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.