Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23513 | 70762;70763;70764 | chr2:178575595;178575594;178575593 | chr2:179440322;179440321;179440320 |
| N2AB | 21872 | 65839;65840;65841 | chr2:178575595;178575594;178575593 | chr2:179440322;179440321;179440320 |
| N2A | 20945 | 63058;63059;63060 | chr2:178575595;178575594;178575593 | chr2:179440322;179440321;179440320 |
| N2B | 14448 | 43567;43568;43569 | chr2:178575595;178575594;178575593 | chr2:179440322;179440321;179440320 |
| Novex-1 | 14573 | 43942;43943;43944 | chr2:178575595;178575594;178575593 | chr2:179440322;179440321;179440320 |
| Novex-2 | 14640 | 44143;44144;44145 | chr2:178575595;178575594;178575593 | chr2:179440322;179440321;179440320 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs1553613561  |
None | 0.999 | D | 0.589 | 0.533 | 0.38342384377 | gnomAD-4.0.0 | 2.05278E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69865E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.653 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| N/C | 0.9949 | likely_pathogenic | 0.9946 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| N/D | 0.9935 | likely_pathogenic | 0.9947 | pathogenic | -2.401 | Highly Destabilizing | 0.998 | D | 0.611 | neutral | D | 0.537173802 | None | None | N |
| N/E | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.236 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/F | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/G | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.565 | neutral | None | None | None | None | N |
| N/H | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.568408789 | None | None | N |
| N/I | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.765 | deleterious | D | 0.568662279 | None | None | N |
| N/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.556038526 | None | None | N |
| N/L | 0.9966 | likely_pathogenic | 0.9966 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/M | 0.998 | likely_pathogenic | 0.9981 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/Q | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/R | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/S | 0.9815 | likely_pathogenic | 0.9817 | pathogenic | -0.965 | Destabilizing | 0.999 | D | 0.589 | neutral | D | 0.527766053 | None | None | N |
| N/T | 0.9924 | likely_pathogenic | 0.9926 | pathogenic | -0.667 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | N | 0.505481062 | None | None | N |
| N/V | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| N/W | 1.0 | likely_pathogenic | 1.0 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| N/Y | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.568408789 | 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.