Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26407 | 79444;79445;79446 | chr2:178566913;178566912;178566911 | chr2:179431640;179431639;179431638 |
| N2AB | 24766 | 74521;74522;74523 | chr2:178566913;178566912;178566911 | chr2:179431640;179431639;179431638 |
| N2A | 23839 | 71740;71741;71742 | chr2:178566913;178566912;178566911 | chr2:179431640;179431639;179431638 |
| N2B | 17342 | 52249;52250;52251 | chr2:178566913;178566912;178566911 | chr2:179431640;179431639;179431638 |
| Novex-1 | 17467 | 52624;52625;52626 | chr2:178566913;178566912;178566911 | chr2:179431640;179431639;179431638 |
| Novex-2 | 17534 | 52825;52826;52827 | chr2:178566913;178566912;178566911 | chr2:179431640;179431639;179431638 |
| 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/R | rs1018970512  |
-2.26 | 1.0 | D | 0.903 | 0.92 | 0.920412695238 | gnomAD-2.1.1 | 5.24E-05 | None | None | None | None | N | None | 0 | 3.76943E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs1018970512 |
-2.26 | 1.0 | D | 0.903 | 0.92 | 0.920412695238 | gnomAD-3.1.2 | 1.24882E-04 | None | None | None | None | N | None | 0 | 1.24606E-03 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1018970512 |
-2.26 | 1.0 | D | 0.903 | 0.92 | 0.920412695238 | gnomAD-4.0.0 | 4.10026E-05 | None | None | None | None | N | None | 0 | 5.42667E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -3.637 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| W/C | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -2.13 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.689008847 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -4.099 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.997 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/F | 0.7987 | likely_pathogenic | 0.8469 | pathogenic | -2.423 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| W/G | 0.9877 | likely_pathogenic | 0.9912 | pathogenic | -3.856 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.689008847 | None | None | N |
| W/H | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.847 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/I | 0.9962 | likely_pathogenic | 0.9967 | pathogenic | -2.765 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.105 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/L | 0.9866 | likely_pathogenic | 0.99 | pathogenic | -2.765 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.687999826 | None | None | N |
| W/M | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.817 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.087 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.683 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.704 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.689008847 | None | None | N |
| W/S | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -3.895 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.672989487 | None | None | N |
| W/T | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -3.724 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/V | 0.9959 | likely_pathogenic | 0.9966 | pathogenic | -3.087 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/Y | 0.9741 | likely_pathogenic | 0.9747 | pathogenic | -2.34 | Highly Destabilizing | 1.0 | D | 0.796 | 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.