Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22375 | 67348;67349;67350 | chr2:178580164;178580163;178580162 | chr2:179444891;179444890;179444889 |
| N2AB | 20734 | 62425;62426;62427 | chr2:178580164;178580163;178580162 | chr2:179444891;179444890;179444889 |
| N2A | 19807 | 59644;59645;59646 | chr2:178580164;178580163;178580162 | chr2:179444891;179444890;179444889 |
| N2B | 13310 | 40153;40154;40155 | chr2:178580164;178580163;178580162 | chr2:179444891;179444890;179444889 |
| Novex-1 | 13435 | 40528;40529;40530 | chr2:178580164;178580163;178580162 | chr2:179444891;179444890;179444889 |
| Novex-2 | 13502 | 40729;40730;40731 | chr2:178580164;178580163;178580162 | chr2:179444891;179444890;179444889 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.893 | 0.87 | 0.911217961243 | gnomAD-4.0.0 | 6.84437E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99677E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | -3.755 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -2.095 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.684751316 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.931 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.83 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/F | 0.8602 | likely_pathogenic | 0.8055 | pathogenic | -2.346 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/G | 0.9849 | likely_pathogenic | 0.9858 | pathogenic | -3.972 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.684751316 | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -2.833 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/I | 0.9963 | likely_pathogenic | 0.996 | pathogenic | -2.893 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/L | 0.9917 | likely_pathogenic | 0.9913 | pathogenic | -2.893 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.68354049 | None | None | N |
| W/M | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -2.308 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.428 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.212 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.346 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.331 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.684751316 | None | None | N |
| W/S | 0.9966 | likely_pathogenic | 0.9968 | pathogenic | -3.584 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.684751316 | None | None | N |
| W/T | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -3.414 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/V | 0.9957 | likely_pathogenic | 0.9954 | pathogenic | -3.212 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/Y | 0.9782 | likely_pathogenic | 0.9713 | pathogenic | -2.22 | Highly Destabilizing | 1.0 | D | 0.858 | 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.