Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22177 | 66754;66755;66756 | chr2:178581739;178581738;178581737 | chr2:179446466;179446465;179446464 |
| N2AB | 20536 | 61831;61832;61833 | chr2:178581739;178581738;178581737 | chr2:179446466;179446465;179446464 |
| N2A | 19609 | 59050;59051;59052 | chr2:178581739;178581738;178581737 | chr2:179446466;179446465;179446464 |
| N2B | 13112 | 39559;39560;39561 | chr2:178581739;178581738;178581737 | chr2:179446466;179446465;179446464 |
| Novex-1 | 13237 | 39934;39935;39936 | chr2:178581739;178581738;178581737 | chr2:179446466;179446465;179446464 |
| Novex-2 | 13304 | 40135;40136;40137 | chr2:178581739;178581738;178581737 | chr2:179446466;179446465;179446464 |
| 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/L | None | None | 1.0 | D | 0.875 | 0.828 | 0.931053846008 | gnomAD-4.0.0 | 1.60362E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.89372E-05 | 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 | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | -3.386 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/C | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.679257932 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.445 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.328 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/F | 0.8147 | likely_pathogenic | 0.8307 | pathogenic | -2.043 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/G | 0.9884 | likely_pathogenic | 0.9915 | pathogenic | -3.633 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.679257932 | None | None | N |
| W/H | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/I | 0.9963 | likely_pathogenic | 0.997 | pathogenic | -2.442 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.615 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/L | 0.9887 | likely_pathogenic | 0.9907 | pathogenic | -2.442 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.66222955 | None | None | N |
| W/M | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.27 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.132 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.237 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.679257932 | None | None | N |
| W/S | 0.9973 | likely_pathogenic | 0.998 | pathogenic | -3.491 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.663238571 | None | None | N |
| W/T | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -3.303 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/V | 0.996 | likely_pathogenic | 0.9969 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/Y | 0.9774 | likely_pathogenic | 0.9825 | pathogenic | -1.872 | Destabilizing | 1.0 | D | 0.847 | 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.