Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23037 | 69334;69335;69336 | chr2:178577226;178577225;178577224 | chr2:179441953;179441952;179441951 |
| N2AB | 21396 | 64411;64412;64413 | chr2:178577226;178577225;178577224 | chr2:179441953;179441952;179441951 |
| N2A | 20469 | 61630;61631;61632 | chr2:178577226;178577225;178577224 | chr2:179441953;179441952;179441951 |
| N2B | 13972 | 42139;42140;42141 | chr2:178577226;178577225;178577224 | chr2:179441953;179441952;179441951 |
| Novex-1 | 14097 | 42514;42515;42516 | chr2:178577226;178577225;178577224 | chr2:179441953;179441952;179441951 |
| Novex-2 | 14164 | 42715;42716;42717 | chr2:178577226;178577225;178577224 | chr2:179441953;179441952;179441951 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1252508608  |
None | 0.999 | D | 0.73 | 0.799 | 0.754806243798 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.79386E-04 |
| V/A | rs1252508608 |
None | 0.999 | D | 0.73 | 0.799 | 0.754806243798 | gnomAD-4.0.0 | 3.84774E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78948E-06 | 0 | 2.84754E-05 |
| V/D | rs1252508608 |
None | 1.0 | D | 0.8 | 0.816 | 0.900406064088 | gnomAD-4.0.0 | 4.77812E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58025E-06 | 0 | 0 |
| V/I | rs1206637127 |
None | 0.997 | N | 0.705 | 0.42 | None | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9239 | likely_pathogenic | 0.9453 | pathogenic | -1.73 | Destabilizing | 0.999 | D | 0.73 | prob.delet. | D | 0.617357512 | None | None | I |
| V/C | 0.9823 | likely_pathogenic | 0.9863 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| V/D | 0.9976 | likely_pathogenic | 0.999 | pathogenic | -1.924 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.63421445 | None | None | I |
| V/E | 0.9937 | likely_pathogenic | 0.9968 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| V/F | 0.9117 | likely_pathogenic | 0.9143 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.617357512 | None | None | I |
| V/G | 0.9663 | likely_pathogenic | 0.982 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.63421445 | None | None | I |
| V/H | 0.998 | likely_pathogenic | 0.9988 | pathogenic | -1.587 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| V/I | 0.0891 | likely_benign | 0.0847 | benign | -0.882 | Destabilizing | 0.997 | D | 0.705 | prob.neutral | N | 0.497192398 | None | None | I |
| V/K | 0.9936 | likely_pathogenic | 0.9963 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| V/L | 0.7506 | likely_pathogenic | 0.7536 | pathogenic | -0.882 | Destabilizing | 0.997 | D | 0.741 | deleterious | D | 0.599320108 | None | None | I |
| V/M | 0.7343 | likely_pathogenic | 0.776 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| V/N | 0.9858 | likely_pathogenic | 0.9928 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| V/P | 0.9917 | likely_pathogenic | 0.9909 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| V/Q | 0.9931 | likely_pathogenic | 0.9962 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| V/R | 0.9898 | likely_pathogenic | 0.9936 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| V/S | 0.9662 | likely_pathogenic | 0.9817 | pathogenic | -1.831 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| V/T | 0.9234 | likely_pathogenic | 0.9515 | pathogenic | -1.692 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | I |
| V/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| V/Y | 0.994 | likely_pathogenic | 0.995 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.846 | deleterious | 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.