Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28597 | 86014;86015;86016 | chr2:178560343;178560342;178560341 | chr2:179425070;179425069;179425068 |
| N2AB | 26956 | 81091;81092;81093 | chr2:178560343;178560342;178560341 | chr2:179425070;179425069;179425068 |
| N2A | 26029 | 78310;78311;78312 | chr2:178560343;178560342;178560341 | chr2:179425070;179425069;179425068 |
| N2B | 19532 | 58819;58820;58821 | chr2:178560343;178560342;178560341 | chr2:179425070;179425069;179425068 |
| Novex-1 | 19657 | 59194;59195;59196 | chr2:178560343;178560342;178560341 | chr2:179425070;179425069;179425068 |
| Novex-2 | 19724 | 59395;59396;59397 | chr2:178560343;178560342;178560341 | chr2:179425070;179425069;179425068 |
| 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 | rs1575611720  |
None | 1.0 | D | 0.749 | 0.644 | 0.792346142243 | gnomAD-4.0.0 | 3.18287E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86582E-05 | 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 | 0.9829 | likely_pathogenic | 0.9839 | pathogenic | -3.337 | Highly Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| W/C | 0.9925 | likely_pathogenic | 0.9936 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | D | 0.561297856 | None | None | I |
| W/D | 0.9963 | likely_pathogenic | 0.9969 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| W/E | 0.9967 | likely_pathogenic | 0.9975 | pathogenic | -2.018 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| W/F | 0.6285 | likely_pathogenic | 0.6651 | pathogenic | -2.164 | Highly Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| W/G | 0.9495 | likely_pathogenic | 0.9545 | pathogenic | -3.526 | Highly Destabilizing | 1.0 | D | 0.665 | neutral | D | 0.542179643 | None | None | I |
| W/H | 0.9817 | likely_pathogenic | 0.9836 | pathogenic | -1.785 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| W/I | 0.9803 | likely_pathogenic | 0.9838 | pathogenic | -2.635 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| W/K | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| W/L | 0.9423 | likely_pathogenic | 0.9512 | pathogenic | -2.635 | Highly Destabilizing | 1.0 | D | 0.665 | neutral | D | 0.536810819 | None | None | I |
| W/M | 0.9805 | likely_pathogenic | 0.9834 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | I |
| W/N | 0.9938 | likely_pathogenic | 0.9943 | pathogenic | -2.132 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| W/P | 0.9904 | likely_pathogenic | 0.9913 | pathogenic | -2.887 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| W/Q | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| W/R | 0.9957 | likely_pathogenic | 0.9967 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.542686622 | None | None | I |
| W/S | 0.9715 | likely_pathogenic | 0.9734 | pathogenic | -2.567 | Highly Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.53605035 | None | None | I |
| W/T | 0.9815 | likely_pathogenic | 0.9843 | pathogenic | -2.46 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| W/V | 0.9786 | likely_pathogenic | 0.9833 | pathogenic | -2.887 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| W/Y | 0.8263 | likely_pathogenic | 0.833 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.599 | 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.