Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3484 | 10675;10676;10677 | chr2:178757770;178757769;178757768 | chr2:179622497;179622496;179622495 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3438 | 10537;10538;10539 | chr2:178757770;178757769;178757768 | chr2:179622497;179622496;179622495 |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | rs1031005572  |
-0.874 | None | None | None | 0.391 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/I | rs1031005572 |
-0.874 | None | None | None | 0.391 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/I | rs1031005572 |
-0.874 | None | None | None | 0.391 | None | gnomAD-4.0.0 | 6.57212E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/Y | rs757971157 |
-0.757 | None | None | None | 0.418 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| F/Y | rs757971157 |
-0.757 | None | None | None | 0.418 | None | gnomAD-4.0.0 | 3.18261E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76599E-05 | 0 | None | 0 | 0 | 2.85861E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.997 | likely_pathogenic | None | None | -2.602 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.9754 | likely_pathogenic | None | None | -1.62 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/D | 0.9996 | likely_pathogenic | None | None | -3.609 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9995 | likely_pathogenic | None | None | -3.387 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9983 | likely_pathogenic | None | None | -3.01 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.9934 | likely_pathogenic | None | None | -2.258 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.8742 | likely_pathogenic | None | None | -1.241 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/K | 0.999 | likely_pathogenic | None | None | -2.39 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.9808 | likely_pathogenic | None | None | -1.241 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/M | 0.9484 | likely_pathogenic | None | None | -1.049 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.998 | likely_pathogenic | None | None | -3.09 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | None | None | -1.711 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.9986 | likely_pathogenic | None | None | -2.872 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9978 | likely_pathogenic | None | None | -2.307 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.9976 | likely_pathogenic | None | None | -3.406 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/T | 0.9981 | likely_pathogenic | None | None | -3.068 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.933 | likely_pathogenic | None | None | -1.711 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/W | 0.9341 | likely_pathogenic | None | None | -0.713 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.6992 | likely_pathogenic | None | None | -1.126 | 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.