Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3706 | 11341;11342;11343 | chr2:178756360;178756359;178756358 | chr2:179621087;179621086;179621085 |
| 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 | 3535 | 10828;10829;10830 | chr2:178756360;178756359;178756358 | chr2:179621087;179621086;179621085 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs748468365  |
-1.589 | None | None | None | 0.124 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.93723E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs748468365 |
-1.589 | None | None | None | 0.124 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs748468365 |
-1.589 | None | None | None | 0.124 | None | gnomAD-4.0.0 | 6.19671E-06 | None | None | None | None | N | None | 1.06778E-04 | 0 | None | 0 | 0 | None | 1.56216E-05 | 0 | 0 | 0 | 1.60097E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2252 | likely_benign | None | None | -2.343 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.3225 | likely_benign | None | None | -1.628 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.667 | likely_pathogenic | None | None | -2.351 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.3009 | likely_benign | None | None | -2.251 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.1088 | likely_benign | None | None | -1.542 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/G | 0.429 | ambiguous | None | None | -2.787 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.1735 | likely_benign | None | None | -2.112 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.0717 | likely_benign | None | None | -1.119 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.2014 | likely_benign | None | None | -1.732 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.1017 | likely_benign | None | None | -0.925 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.3745 | ambiguous | None | None | -1.736 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.7251 | likely_pathogenic | None | None | -1.502 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Q | 0.1211 | likely_benign | None | None | -1.809 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.1425 | likely_benign | None | None | -1.221 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/S | 0.2571 | likely_benign | None | None | -2.41 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.1912 | likely_benign | None | None | -2.183 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.0695 | likely_benign | None | None | -1.502 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/W | 0.1458 | likely_benign | None | None | -1.785 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.2372 | likely_benign | None | None | -1.556 | Destabilizing | None | None | None | None | 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.