Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2111 | 6556;6557;6558 | chr2:178775533;178775532;178775531 | chr2:179640260;179640259;179640258 |
| N2AB | 2111 | 6556;6557;6558 | chr2:178775533;178775532;178775531 | chr2:179640260;179640259;179640258 |
| N2A | 2111 | 6556;6557;6558 | chr2:178775533;178775532;178775531 | chr2:179640260;179640259;179640258 |
| N2B | 2065 | 6418;6419;6420 | chr2:178775533;178775532;178775531 | chr2:179640260;179640259;179640258 |
| Novex-1 | 2065 | 6418;6419;6420 | chr2:178775533;178775532;178775531 | chr2:179640260;179640259;179640258 |
| Novex-2 | 2065 | 6418;6419;6420 | chr2:178775533;178775532;178775531 | chr2:179640260;179640259;179640258 |
| Novex-3 | 2111 | 6556;6557;6558 | chr2:178775533;178775532;178775531 | chr2:179640260;179640259;179640258 |
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 | rs2092127553  |
None | 1.0 | D | 0.781 | 0.935 | 0.910078474493 | gnomAD-4.0.0 | 1.59083E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 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 | 0.9962 | likely_pathogenic | 0.9968 | pathogenic | -2.919 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/C | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.764047396 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.473 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.363 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/F | 0.5509 | ambiguous | 0.5306 | ambiguous | -2.124 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/G | 0.9859 | likely_pathogenic | 0.9889 | pathogenic | -3.135 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.76410372 | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.714 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/I | 0.9775 | likely_pathogenic | 0.9761 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.706 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| W/L | 0.9632 | likely_pathogenic | 0.9642 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.76410372 | None | None | N |
| W/M | 0.9906 | likely_pathogenic | 0.9908 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.413 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.391 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.171 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.685 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.764047396 | None | None | N |
| W/S | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -3.401 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.764047396 | None | None | N |
| W/T | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -3.215 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| W/V | 0.9837 | likely_pathogenic | 0.9837 | pathogenic | -2.391 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| W/Y | 0.9276 | likely_pathogenic | 0.9344 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.798 | 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.