Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27037 | 81334;81335;81336 | chr2:178565023;178565022;178565021 | chr2:179429750;179429749;179429748 |
| N2AB | 25396 | 76411;76412;76413 | chr2:178565023;178565022;178565021 | chr2:179429750;179429749;179429748 |
| N2A | 24469 | 73630;73631;73632 | chr2:178565023;178565022;178565021 | chr2:179429750;179429749;179429748 |
| N2B | 17972 | 54139;54140;54141 | chr2:178565023;178565022;178565021 | chr2:179429750;179429749;179429748 |
| Novex-1 | 18097 | 54514;54515;54516 | chr2:178565023;178565022;178565021 | chr2:179429750;179429749;179429748 |
| Novex-2 | 18164 | 54715;54716;54717 | chr2:178565023;178565022;178565021 | chr2:179429750;179429749;179429748 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | 1.0 | D | 0.844 | 0.882 | 0.936942077355 | gnomAD-4.0.0 | 1.5924E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43575E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9641 | likely_pathogenic | 0.9451 | pathogenic | -2.715 | Highly Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| L/C | 0.9308 | likely_pathogenic | 0.8938 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| L/D | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.79 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/E | 0.9967 | likely_pathogenic | 0.9957 | pathogenic | -2.566 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| L/F | 0.9114 | likely_pathogenic | 0.862 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| L/G | 0.9871 | likely_pathogenic | 0.9829 | pathogenic | -3.275 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| L/H | 0.9935 | likely_pathogenic | 0.9908 | pathogenic | -2.596 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| L/I | 0.5905 | likely_pathogenic | 0.4951 | ambiguous | -1.101 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| L/K | 0.9948 | likely_pathogenic | 0.9939 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| L/M | 0.514 | ambiguous | 0.4128 | ambiguous | -1.083 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.608792396 | None | None | N |
| L/N | 0.9936 | likely_pathogenic | 0.9915 | pathogenic | -2.489 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| L/P | 0.994 | likely_pathogenic | 0.9904 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.672516234 | None | None | N |
| L/Q | 0.987 | likely_pathogenic | 0.9805 | pathogenic | -2.363 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.672516234 | None | None | N |
| L/R | 0.9904 | likely_pathogenic | 0.9878 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.672516234 | None | None | N |
| L/S | 0.9951 | likely_pathogenic | 0.9909 | pathogenic | -3.261 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| L/T | 0.9761 | likely_pathogenic | 0.958 | pathogenic | -2.879 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| L/V | 0.657 | likely_pathogenic | 0.5556 | ambiguous | -1.619 | Destabilizing | 0.999 | D | 0.837 | deleterious | D | 0.599768335 | None | None | N |
| L/W | 0.9899 | likely_pathogenic | 0.9843 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| L/Y | 0.9889 | likely_pathogenic | 0.9842 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.813 | 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.