Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7828 | 23707;23708;23709 | chr2:178720160;178720159;178720158 | chr2:179584887;179584886;179584885 |
| N2AB | 7511 | 22756;22757;22758 | chr2:178720160;178720159;178720158 | chr2:179584887;179584886;179584885 |
| N2A | 6584 | 19975;19976;19977 | chr2:178720160;178720159;178720158 | chr2:179584887;179584886;179584885 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/L | rs750697689  |
-2.146 | 1.0 | D | 0.854 | 0.83 | 0.962728113367 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 8.9E-06 | 0 |
| W/L | rs750697689 |
-2.146 | 1.0 | D | 0.854 | 0.83 | 0.962728113367 | gnomAD-4.0.0 | 3.18293E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.773E-05 | None | 0 | 0 | 2.85871E-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 | 0.9963 | likely_pathogenic | 0.9948 | pathogenic | -2.943 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| W/C | 0.9967 | likely_pathogenic | 0.9954 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.6974935 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.525 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.407 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/F | 0.5299 | ambiguous | 0.5068 | ambiguous | -1.791 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/G | 0.9865 | likely_pathogenic | 0.9829 | pathogenic | -3.184 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.713311057 | None | None | N |
| W/H | 0.9975 | likely_pathogenic | 0.9971 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/I | 0.9712 | likely_pathogenic | 0.9599 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.574 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/L | 0.9239 | likely_pathogenic | 0.8959 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.713311057 | None | None | N |
| W/M | 0.9887 | likely_pathogenic | 0.9834 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/N | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.34 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| W/P | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -2.358 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.138 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.391 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.713512861 | None | None | N |
| W/S | 0.9953 | likely_pathogenic | 0.9937 | pathogenic | -3.414 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.713512861 | None | None | N |
| W/T | 0.9966 | likely_pathogenic | 0.9951 | pathogenic | -3.221 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/V | 0.9786 | likely_pathogenic | 0.9698 | pathogenic | -2.358 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/Y | 0.9278 | likely_pathogenic | 0.9106 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.775 | 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.