Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29238 | 87937;87938;87939 | chr2:178557550;178557549;178557548 | chr2:179422277;179422276;179422275 |
| N2AB | 27597 | 83014;83015;83016 | chr2:178557550;178557549;178557548 | chr2:179422277;179422276;179422275 |
| N2A | 26670 | 80233;80234;80235 | chr2:178557550;178557549;178557548 | chr2:179422277;179422276;179422275 |
| N2B | 20173 | 60742;60743;60744 | chr2:178557550;178557549;178557548 | chr2:179422277;179422276;179422275 |
| Novex-1 | 20298 | 61117;61118;61119 | chr2:178557550;178557549;178557548 | chr2:179422277;179422276;179422275 |
| Novex-2 | 20365 | 61318;61319;61320 | chr2:178557550;178557549;178557548 | chr2:179422277;179422276;179422275 |
| 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/S | rs1701983890  |
None | 1.0 | D | 0.801 | 0.495 | 0.524218619521 | gnomAD-4.0.0 | 1.20035E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 | 0.8525 | likely_pathogenic | 0.8202 | pathogenic | -1.136 | Destabilizing | 0.999 | D | 0.83 | deleterious | D | 0.545873989 | None | None | N |
| P/C | 0.9904 | likely_pathogenic | 0.9903 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -3.237 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/E | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -3.195 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/G | 0.9935 | likely_pathogenic | 0.9936 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/H | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.558497742 | None | None | N |
| P/I | 0.9894 | likely_pathogenic | 0.9905 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| P/K | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/L | 0.9644 | likely_pathogenic | 0.9696 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.555962847 | None | None | N |
| P/M | 0.9956 | likely_pathogenic | 0.9961 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Q | 0.996 | likely_pathogenic | 0.996 | pathogenic | -1.838 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/R | 0.9929 | likely_pathogenic | 0.9938 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.546380968 | None | None | N |
| P/S | 0.9832 | likely_pathogenic | 0.9811 | pathogenic | -1.861 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.546127479 | None | None | N |
| P/T | 0.9763 | likely_pathogenic | 0.9752 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.557230295 | None | None | N |
| P/V | 0.9685 | likely_pathogenic | 0.969 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.738 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.821 | 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.