Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3687 | 11284;11285;11286 | chr2:178756417;178756416;178756415 | chr2:179621144;179621143;179621142 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3516 | 10771;10772;10773 | chr2:178756417;178756416;178756415 | chr2:179621144;179621143;179621142 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | None | None | None | 0.115 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/T | None | None | None | None | None | 0.08 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0855 | likely_benign | None | None | -0.234 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/C | 0.0955 | likely_benign | None | None | -0.358 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/D | 0.2097 | likely_benign | None | None | 0.201 | Stabilizing | None | None | None | None | None | None | None | None | I |
| S/E | 0.3089 | likely_benign | None | None | 0.108 | Stabilizing | None | None | None | None | None | None | None | None | I |
| S/F | 0.1744 | likely_benign | None | None | -0.936 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/G | 0.0973 | likely_benign | None | None | -0.307 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/H | 0.2009 | likely_benign | None | None | -0.632 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/I | 0.1403 | likely_benign | None | None | -0.176 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/K | 0.3914 | ambiguous | None | None | -0.374 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/L | 0.1114 | likely_benign | None | None | -0.176 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/M | 0.2345 | likely_benign | None | None | -0.228 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/N | 0.1179 | likely_benign | None | None | -0.132 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/P | 0.1431 | likely_benign | None | None | -0.169 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Q | 0.3384 | likely_benign | None | None | -0.313 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/R | 0.2826 | likely_benign | None | None | -0.152 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/T | 0.0837 | likely_benign | None | None | -0.223 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/V | 0.1673 | likely_benign | None | None | -0.169 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/W | 0.2734 | likely_benign | None | None | -1.024 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Y | 0.1336 | likely_benign | None | None | -0.702 | Destabilizing | None | None | None | None | 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.