Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3667 | 11224;11225;11226 | chr2:178756477;178756476;178756475 | chr2:179621204;179621203;179621202 |
| 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 | 3496 | 10711;10712;10713 | chr2:178756477;178756476;178756475 | chr2:179621204;179621203;179621202 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/L | rs770140533  |
0.457 | None | None | None | 0.087 | None | gnomAD-2.1.1 | 2.81E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.21E-05 | 0 |
| Q/L | rs770140533 |
0.457 | None | None | None | 0.087 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| Q/L | rs770140533 |
0.457 | None | None | None | 0.087 | None | gnomAD-4.0.0 | 3.45871E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.22144E-05 | 0 | 2.84398E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.283 | likely_benign | None | None | -0.249 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/C | 0.7362 | likely_pathogenic | None | None | 0.031 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/D | 0.3831 | ambiguous | None | None | 0.112 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/E | 0.0848 | likely_benign | None | None | 0.133 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/F | 0.8144 | likely_pathogenic | None | None | -0.287 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/G | 0.3036 | likely_benign | None | None | -0.49 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/H | 0.2725 | likely_benign | None | None | -0.236 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/I | 0.5962 | likely_pathogenic | None | None | 0.312 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/K | 0.0938 | likely_benign | None | None | 0.026 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/L | 0.2265 | likely_benign | None | None | 0.312 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/M | 0.5362 | ambiguous | None | None | 0.353 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/N | 0.3216 | likely_benign | None | None | -0.452 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/P | 0.1811 | likely_benign | None | None | 0.155 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/R | 0.1087 | likely_benign | None | None | 0.158 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/S | 0.2883 | likely_benign | None | None | -0.456 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/T | 0.2683 | likely_benign | None | None | -0.261 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/V | 0.4171 | ambiguous | None | None | 0.155 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/W | 0.5964 | likely_pathogenic | None | None | -0.253 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/Y | 0.6004 | likely_pathogenic | None | None | 0.006 | Stabilizing | 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.