Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15601 | 47026;47027;47028 | chr2:178618749;178618748;178618747 | chr2:179483476;179483475;179483474 |
| N2AB | 13960 | 42103;42104;42105 | chr2:178618749;178618748;178618747 | chr2:179483476;179483475;179483474 |
| N2A | 13033 | 39322;39323;39324 | chr2:178618749;178618748;178618747 | chr2:179483476;179483475;179483474 |
| N2B | 6536 | 19831;19832;19833 | chr2:178618749;178618748;178618747 | chr2:179483476;179483475;179483474 |
| Novex-1 | 6661 | 20206;20207;20208 | chr2:178618749;178618748;178618747 | chr2:179483476;179483475;179483474 |
| Novex-2 | 6728 | 20407;20408;20409 | chr2:178618749;178618748;178618747 | chr2:179483476;179483475;179483474 |
| 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/C | None | None | 1.0 | D | 0.817 | 0.839 | 0.658254632336 | gnomAD-4.0.0 | 1.59569E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8654E-06 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.889 | 0.882 | 0.928854916774 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.985 | likely_pathogenic | 0.9883 | pathogenic | -2.839 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/C | 0.9934 | likely_pathogenic | 0.9953 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.574680488 | None | None | N |
| W/D | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -3.482 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/E | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -3.357 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/F | 0.4943 | ambiguous | 0.4763 | ambiguous | -1.923 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/G | 0.9553 | likely_pathogenic | 0.9621 | pathogenic | -3.079 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.574473969 | None | None | N |
| W/H | 0.9952 | likely_pathogenic | 0.995 | pathogenic | -2.563 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/I | 0.8548 | likely_pathogenic | 0.8815 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/K | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -2.498 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/L | 0.7987 | likely_pathogenic | 0.8345 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.574473969 | None | None | N |
| W/M | 0.9596 | likely_pathogenic | 0.9704 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| W/N | 0.9974 | likely_pathogenic | 0.9971 | pathogenic | -3.262 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/P | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/Q | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -3.009 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/R | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -2.503 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.574680488 | None | None | N |
| W/S | 0.991 | likely_pathogenic | 0.9916 | pathogenic | -3.27 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.574680488 | None | None | N |
| W/T | 0.9894 | likely_pathogenic | 0.9906 | pathogenic | -3.062 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/V | 0.9176 | likely_pathogenic | 0.9334 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/Y | 0.8405 | likely_pathogenic | 0.8298 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.802 | 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.