Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3727 | 11404;11405;11406 | chr2:178756297;178756296;178756295 | chr2:179621024;179621023;179621022 |
| 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 | 3556 | 10891;10892;10893 | chr2:178756297;178756296;178756295 | chr2:179621024;179621023;179621022 |
| 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/E | rs1561082102  |
None | None | None | None | 0.092 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/E | rs1561082102 |
None | None | None | None | 0.092 | None | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2859 | likely_benign | None | None | -0.733 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/C | 0.7142 | likely_pathogenic | None | None | 0.031 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/D | 0.5122 | ambiguous | None | None | -0.609 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/E | 0.0821 | likely_benign | None | None | -0.501 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/F | 0.8555 | likely_pathogenic | None | None | -0.32 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/G | 0.3003 | likely_benign | None | None | -1.111 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/H | 0.372 | ambiguous | None | None | -0.896 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/I | 0.6422 | likely_pathogenic | None | None | 0.245 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/K | 0.1019 | likely_benign | None | None | -0.492 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/L | 0.3265 | likely_benign | None | None | 0.245 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/M | 0.549 | ambiguous | None | None | 0.705 | Stabilizing | None | None | None | None | None | None | None | None | I |
| Q/N | 0.436 | ambiguous | None | None | -1.005 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/P | 0.5705 | likely_pathogenic | None | None | -0.05 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/R | 0.1119 | likely_benign | None | None | -0.432 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/S | 0.3302 | likely_benign | None | None | -1.106 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/T | 0.2989 | likely_benign | None | None | -0.802 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/V | 0.4758 | ambiguous | None | None | -0.05 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/W | 0.7121 | likely_pathogenic | None | None | -0.209 | Destabilizing | None | None | None | None | None | None | None | None | I |
| Q/Y | 0.6557 | likely_pathogenic | None | None | -0.011 | 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.