Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7263 | 22012;22013;22014 | chr2:178723220;178723219;178723218 | chr2:179587947;179587946;179587945 |
| N2AB | 6946 | 21061;21062;21063 | chr2:178723220;178723219;178723218 | chr2:179587947;179587946;179587945 |
| N2A | 6019 | 18280;18281;18282 | chr2:178723220;178723219;178723218 | chr2:179587947;179587946;179587945 |
| 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/C | rs377544260  |
-1.964 | 1.0 | D | 0.821 | 0.76 | 0.920131777592 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 1.65618E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs377544260 |
-1.964 | 1.0 | D | 0.821 | 0.76 | 0.920131777592 | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 2.41406E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs377544260 |
-1.964 | 1.0 | D | 0.821 | 0.76 | 0.920131777592 | gnomAD-4.0.0 | 8.67755E-06 | None | None | None | None | N | None | 1.86981E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | None | None | 0.217 | D | 0.692 | 0.861 | 0.911182896716 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31911E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9926 | likely_pathogenic | 0.9938 | pathogenic | -3.136 | Highly Destabilizing | 0.992 | D | 0.822 | deleterious | None | None | None | None | N |
| W/C | 0.995 | likely_pathogenic | 0.9954 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.711887709 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.354 | Highly Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| W/E | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -3.235 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/F | 0.6241 | likely_pathogenic | 0.6483 | pathogenic | -1.878 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/G | 0.9824 | likely_pathogenic | 0.9813 | pathogenic | -3.384 | Highly Destabilizing | 0.217 | N | 0.692 | prob.neutral | D | 0.711685904 | None | None | N |
| W/H | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -2.282 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/I | 0.9595 | likely_pathogenic | 0.9655 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.577 | Highly Destabilizing | 0.999 | D | 0.856 | deleterious | None | None | None | None | N |
| W/L | 0.894 | likely_pathogenic | 0.9165 | pathogenic | -2.19 | Highly Destabilizing | 0.999 | D | 0.822 | deleterious | D | 0.686147793 | None | None | N |
| W/M | 0.9813 | likely_pathogenic | 0.9841 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| W/N | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.286 | Highly Destabilizing | 0.999 | D | 0.848 | deleterious | None | None | None | None | N |
| W/P | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -2.535 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -3.108 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -2.303 | Highly Destabilizing | 0.999 | D | 0.851 | deleterious | D | 0.711887709 | None | None | N |
| W/S | 0.994 | likely_pathogenic | 0.9939 | pathogenic | -3.463 | Highly Destabilizing | 0.997 | D | 0.834 | deleterious | D | 0.711887709 | None | None | N |
| W/T | 0.9956 | likely_pathogenic | 0.9957 | pathogenic | -3.273 | Highly Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| W/V | 0.9564 | likely_pathogenic | 0.9647 | pathogenic | -2.535 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/Y | 0.9208 | likely_pathogenic | 0.9194 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.749 | 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.