Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19600 | 59023;59024;59025 | chr2:178593410;178593409;178593408 | chr2:179458137;179458136;179458135 |
| N2AB | 17959 | 54100;54101;54102 | chr2:178593410;178593409;178593408 | chr2:179458137;179458136;179458135 |
| N2A | 17032 | 51319;51320;51321 | chr2:178593410;178593409;178593408 | chr2:179458137;179458136;179458135 |
| N2B | 10535 | 31828;31829;31830 | chr2:178593410;178593409;178593408 | chr2:179458137;179458136;179458135 |
| Novex-1 | 10660 | 32203;32204;32205 | chr2:178593410;178593409;178593408 | chr2:179458137;179458136;179458135 |
| Novex-2 | 10727 | 32404;32405;32406 | chr2:178593410;178593409;178593408 | chr2:179458137;179458136;179458135 |
| 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/C | rs2050664676  |
None | 1.0 | D | 0.879 | 0.662 | 0.712387037076 | gnomAD-4.0.0 | 2.73762E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73491E-04 | 2.69885E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -3.704 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/C | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.401 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.67848287 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -4.044 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.945 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/F | 0.8271 | likely_pathogenic | 0.8583 | pathogenic | -2.404 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/G | 0.9914 | likely_pathogenic | 0.992 | pathogenic | -3.93 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.67848287 | None | None | N |
| W/H | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -2.738 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/I | 0.9966 | likely_pathogenic | 0.9968 | pathogenic | -2.809 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.127 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/L | 0.9918 | likely_pathogenic | 0.9924 | pathogenic | -2.809 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.661020519 | None | None | N |
| W/M | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -2.248 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.83 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.14 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.713 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.662 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.67848287 | None | None | N |
| W/S | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -3.971 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.67848287 | None | None | N |
| W/T | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -3.803 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/V | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -3.14 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/Y | 0.9731 | likely_pathogenic | 0.977 | pathogenic | -2.331 | Highly Destabilizing | 1.0 | D | 0.786 | 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.