Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19820 | 59683;59684;59685 | chr2:178592547;178592546;178592545 | chr2:179457274;179457273;179457272 |
| N2AB | 18179 | 54760;54761;54762 | chr2:178592547;178592546;178592545 | chr2:179457274;179457273;179457272 |
| N2A | 17252 | 51979;51980;51981 | chr2:178592547;178592546;178592545 | chr2:179457274;179457273;179457272 |
| N2B | 10755 | 32488;32489;32490 | chr2:178592547;178592546;178592545 | chr2:179457274;179457273;179457272 |
| Novex-1 | 10880 | 32863;32864;32865 | chr2:178592547;178592546;178592545 | chr2:179457274;179457273;179457272 |
| Novex-2 | 10947 | 33064;33065;33066 | chr2:178592547;178592546;178592545 | chr2:179457274;179457273;179457272 |
| 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/G | None | None | 1.0 | D | 0.82 | 0.907 | 0.736798250571 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-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 | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -2.93 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/C | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.66800859 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.496 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.368 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/F | 0.8596 | likely_pathogenic | 0.865 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/G | 0.9955 | likely_pathogenic | 0.9969 | pathogenic | -3.186 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.699845507 | None | None | N |
| W/H | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/I | 0.991 | likely_pathogenic | 0.9922 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.296 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/L | 0.9864 | likely_pathogenic | 0.9885 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.683826146 | None | None | N |
| W/M | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | -1.668 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.902 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.323 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.702 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.700047312 | None | None | N |
| W/S | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -3.245 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.700047312 | None | None | N |
| W/T | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -3.053 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/V | 0.9935 | likely_pathogenic | 0.9949 | pathogenic | -2.323 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/Y | 0.9704 | likely_pathogenic | 0.9766 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.798 | 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.