Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23087 | 69484;69485;69486 | chr2:178577076;178577075;178577074 | chr2:179441803;179441802;179441801 |
| N2AB | 21446 | 64561;64562;64563 | chr2:178577076;178577075;178577074 | chr2:179441803;179441802;179441801 |
| N2A | 20519 | 61780;61781;61782 | chr2:178577076;178577075;178577074 | chr2:179441803;179441802;179441801 |
| N2B | 14022 | 42289;42290;42291 | chr2:178577076;178577075;178577074 | chr2:179441803;179441802;179441801 |
| Novex-1 | 14147 | 42664;42665;42666 | chr2:178577076;178577075;178577074 | chr2:179441803;179441802;179441801 |
| Novex-2 | 14214 | 42865;42866;42867 | chr2:178577076;178577075;178577074 | chr2:179441803;179441802;179441801 |
| 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 | rs1293167512  |
-1.057 | 1.0 | D | 0.729 | 0.578 | 0.827565720348 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 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 | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -2.938 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| W/C | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.542278094 | None | None | I |
| W/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| W/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| W/F | 0.8293 | likely_pathogenic | 0.8385 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | I |
| W/G | 0.9872 | likely_pathogenic | 0.9884 | pathogenic | -3.127 | Highly Destabilizing | 1.0 | D | 0.647 | neutral | D | 0.548100991 | None | None | I |
| W/H | 0.9954 | likely_pathogenic | 0.9956 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| W/I | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| W/L | 0.9885 | likely_pathogenic | 0.9896 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.647 | neutral | D | 0.539489709 | None | None | I |
| W/M | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| W/N | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| W/P | 0.9976 | likely_pathogenic | 0.9982 | pathogenic | -2.5 | Highly Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| W/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| W/R | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.559368391 | None | None | I |
| W/S | 0.9923 | likely_pathogenic | 0.9928 | pathogenic | -2.119 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.540757157 | None | None | I |
| W/T | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -2.008 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| W/V | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -2.5 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| W/Y | 0.9411 | likely_pathogenic | 0.9378 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | I |
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.