Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18276 | 55051;55052;55053 | chr2:178602576;178602575;178602574 | chr2:179467303;179467302;179467301 |
| N2AB | 16635 | 50128;50129;50130 | chr2:178602576;178602575;178602574 | chr2:179467303;179467302;179467301 |
| N2A | 15708 | 47347;47348;47349 | chr2:178602576;178602575;178602574 | chr2:179467303;179467302;179467301 |
| N2B | 9211 | 27856;27857;27858 | chr2:178602576;178602575;178602574 | chr2:179467303;179467302;179467301 |
| Novex-1 | 9336 | 28231;28232;28233 | chr2:178602576;178602575;178602574 | chr2:179467303;179467302;179467301 |
| Novex-2 | 9403 | 28432;28433;28434 | chr2:178602576;178602575;178602574 | chr2:179467303;179467302;179467301 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs971758179  |
-0.621 | 1.0 | D | 0.905 | 0.707 | 0.809233013941 | gnomAD-2.1.1 | 3.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.51E-05 | 0 |
| P/L | rs971758179 |
-0.621 | 1.0 | D | 0.905 | 0.707 | 0.809233013941 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs971758179 |
-0.621 | 1.0 | D | 0.905 | 0.707 | 0.809233013941 | gnomAD-4.0.0 | 1.97796E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.64367E-06 | 0 | 0 |
| P/R | rs971758179 |
None | 1.0 | D | 0.919 | 0.745 | 0.723681508034 | gnomAD-4.0.0 | 4.39586E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.624E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8595 | likely_pathogenic | 0.7313 | pathogenic | -2.105 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.52538183 | None | None | N |
| P/C | 0.9875 | likely_pathogenic | 0.9716 | pathogenic | -2.317 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9988 | pathogenic | -3.451 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/E | 0.9984 | likely_pathogenic | 0.9966 | pathogenic | -3.288 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9983 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/G | 0.9936 | likely_pathogenic | 0.9855 | pathogenic | -2.549 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/H | 0.998 | likely_pathogenic | 0.9947 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.568693911 | None | None | N |
| P/I | 0.9773 | likely_pathogenic | 0.9544 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9972 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/L | 0.9615 | likely_pathogenic | 0.9118 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.555563179 | None | None | N |
| P/M | 0.9952 | likely_pathogenic | 0.9894 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.9983 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/Q | 0.997 | likely_pathogenic | 0.9925 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/R | 0.9952 | likely_pathogenic | 0.9884 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.568186932 | None | None | N |
| P/S | 0.985 | likely_pathogenic | 0.9657 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.557084116 | None | None | N |
| P/T | 0.9732 | likely_pathogenic | 0.9435 | pathogenic | -2.412 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.531471443 | None | None | N |
| P/V | 0.9212 | likely_pathogenic | 0.8571 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9995 | pathogenic | -1.713 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9988 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.917 | 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.