Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28523 | 85792;85793;85794 | chr2:178560565;178560564;178560563 | chr2:179425292;179425291;179425290 |
| N2AB | 26882 | 80869;80870;80871 | chr2:178560565;178560564;178560563 | chr2:179425292;179425291;179425290 |
| N2A | 25955 | 78088;78089;78090 | chr2:178560565;178560564;178560563 | chr2:179425292;179425291;179425290 |
| N2B | 19458 | 58597;58598;58599 | chr2:178560565;178560564;178560563 | chr2:179425292;179425291;179425290 |
| Novex-1 | 19583 | 58972;58973;58974 | chr2:178560565;178560564;178560563 | chr2:179425292;179425291;179425290 |
| Novex-2 | 19650 | 59173;59174;59175 | chr2:178560565;178560564;178560563 | chr2:179425292;179425291;179425290 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs761341032  |
-1.231 | 0.999 | N | 0.677 | 0.59 | 0.461845970543 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| F/L | rs761341032 |
-1.231 | 0.999 | N | 0.677 | 0.59 | 0.461845970543 | gnomAD-4.0.0 | 1.59251E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85912E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9957 | likely_pathogenic | 0.9957 | pathogenic | -2.319 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/C | 0.9676 | likely_pathogenic | 0.966 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.562937833 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.339 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.091 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/G | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -2.783 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/H | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/I | 0.865 | likely_pathogenic | 0.8398 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.525267157 | None | None | N |
| F/K | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.178 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/L | 0.9859 | likely_pathogenic | 0.9801 | pathogenic | -0.794 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | N | 0.515178299 | None | None | N |
| F/M | 0.9645 | likely_pathogenic | 0.9611 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/N | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -2.939 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/Q | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -2.667 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/R | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -2.142 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| F/S | 0.9958 | likely_pathogenic | 0.996 | pathogenic | -3.336 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.562937833 | None | None | N |
| F/T | 0.9963 | likely_pathogenic | 0.9965 | pathogenic | -2.957 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/V | 0.9086 | likely_pathogenic | 0.8862 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.515539785 | None | None | N |
| F/W | 0.9175 | likely_pathogenic | 0.9243 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| F/Y | 0.7568 | likely_pathogenic | 0.7567 | pathogenic | -0.732 | Destabilizing | 0.999 | D | 0.597 | neutral | D | 0.529576479 | 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.