Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23928 | 72007;72008;72009 | chr2:178574350;178574349;178574348 | chr2:179439077;179439076;179439075 |
| N2AB | 22287 | 67084;67085;67086 | chr2:178574350;178574349;178574348 | chr2:179439077;179439076;179439075 |
| N2A | 21360 | 64303;64304;64305 | chr2:178574350;178574349;178574348 | chr2:179439077;179439076;179439075 |
| N2B | 14863 | 44812;44813;44814 | chr2:178574350;178574349;178574348 | chr2:179439077;179439076;179439075 |
| Novex-1 | 14988 | 45187;45188;45189 | chr2:178574350;178574349;178574348 | chr2:179439077;179439076;179439075 |
| Novex-2 | 15055 | 45388;45389;45390 | chr2:178574350;178574349;178574348 | chr2:179439077;179439076;179439075 |
| 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 | rs1161952836  |
-2.896 | 1.0 | D | 0.854 | 0.811 | 0.615303054963 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs1161952836 |
-2.896 | 1.0 | D | 0.854 | 0.811 | 0.615303054963 | gnomAD-4.0.0 | 1.36857E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.319E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7787 | likely_pathogenic | 0.8307 | pathogenic | -2.243 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.549042266 | None | None | N |
| P/C | 0.9784 | likely_pathogenic | 0.9859 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -3.291 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/E | 0.9968 | likely_pathogenic | 0.9973 | pathogenic | -3.061 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/G | 0.9908 | likely_pathogenic | 0.9935 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/H | 0.9963 | likely_pathogenic | 0.9972 | pathogenic | -2.323 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.58215013 | None | None | N |
| P/I | 0.9749 | likely_pathogenic | 0.9822 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/L | 0.9285 | likely_pathogenic | 0.9428 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.569615283 | None | None | N |
| P/M | 0.9905 | likely_pathogenic | 0.9932 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/N | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.207 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| P/Q | 0.9945 | likely_pathogenic | 0.9955 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/R | 0.9931 | likely_pathogenic | 0.9939 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.926 | deleterious | D | 0.570375751 | None | None | N |
| P/S | 0.9773 | likely_pathogenic | 0.9833 | pathogenic | -2.649 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.555145105 | None | None | N |
| P/T | 0.9581 | likely_pathogenic | 0.969 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.563538896 | None | None | N |
| P/V | 0.925 | likely_pathogenic | 0.9458 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/Y | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.925 | 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.