Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1929 | 6010;6011;6012 | chr2:178776079;178776078;178776077 | chr2:179640806;179640805;179640804 |
| N2AB | 1929 | 6010;6011;6012 | chr2:178776079;178776078;178776077 | chr2:179640806;179640805;179640804 |
| N2A | 1929 | 6010;6011;6012 | chr2:178776079;178776078;178776077 | chr2:179640806;179640805;179640804 |
| N2B | 1883 | 5872;5873;5874 | chr2:178776079;178776078;178776077 | chr2:179640806;179640805;179640804 |
| Novex-1 | 1883 | 5872;5873;5874 | chr2:178776079;178776078;178776077 | chr2:179640806;179640805;179640804 |
| Novex-2 | 1883 | 5872;5873;5874 | chr2:178776079;178776078;178776077 | chr2:179640806;179640805;179640804 |
| Novex-3 | 1929 | 6010;6011;6012 | chr2:178776079;178776078;178776077 | chr2:179640806;179640805;179640804 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs748917796  |
-0.881 | 0.998 | D | 0.578 | 0.641 | 0.640464653361 | gnomAD-2.1.1 | 1.19E-05 | None | None | None | None | N | None | 0 | 8.68E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/F | rs748917796 |
-0.881 | 0.998 | D | 0.578 | 0.641 | 0.640464653361 | gnomAD-4.0.0 | 9.57695E-06 | None | None | None | None | N | None | 0 | 6.70781E-05 | None | 0 | 0 | None | 0 | 0 | 9.8923E-06 | 0 | 0 |
| I/T | None | None | 0.989 | D | 0.603 | 0.739 | 0.759147059685 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9889 | likely_pathogenic | 0.9856 | pathogenic | -2.196 | Highly Destabilizing | 0.992 | D | 0.559 | neutral | None | None | None | None | N |
| I/C | 0.9908 | likely_pathogenic | 0.9893 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | N |
| I/D | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.573 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| I/E | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| I/F | 0.9367 | likely_pathogenic | 0.9156 | pathogenic | -1.536 | Destabilizing | 0.998 | D | 0.578 | neutral | D | 0.624252965 | None | None | N |
| I/G | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| I/H | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.743 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| I/K | 0.9965 | likely_pathogenic | 0.9964 | pathogenic | -1.562 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| I/L | 0.7471 | likely_pathogenic | 0.6895 | pathogenic | -1.203 | Destabilizing | 0.889 | D | 0.562 | neutral | D | 0.523848402 | None | None | N |
| I/M | 0.7238 | likely_pathogenic | 0.6763 | pathogenic | -1.169 | Destabilizing | 0.998 | D | 0.605 | neutral | D | 0.625261416 | None | None | N |
| I/N | 0.9865 | likely_pathogenic | 0.9841 | pathogenic | -1.608 | Destabilizing | 0.999 | D | 0.645 | neutral | D | 0.625901083 | None | None | N |
| I/P | 0.9964 | likely_pathogenic | 0.9962 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| I/Q | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| I/R | 0.9959 | likely_pathogenic | 0.9958 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| I/S | 0.991 | likely_pathogenic | 0.9889 | pathogenic | -2.194 | Highly Destabilizing | 0.998 | D | 0.555 | neutral | D | 0.625375887 | None | None | N |
| I/T | 0.9802 | likely_pathogenic | 0.973 | pathogenic | -2.02 | Highly Destabilizing | 0.989 | D | 0.603 | neutral | D | 0.625261416 | None | None | N |
| I/V | 0.3135 | likely_benign | 0.2479 | benign | -1.51 | Destabilizing | 0.333 | N | 0.392 | neutral | N | 0.350329813 | None | None | N |
| I/W | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| I/Y | 0.993 | likely_pathogenic | 0.992 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.601 | neutral | 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.