Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3733 | 11422;11423;11424 | chr2:178756279;178756278;178756277 | chr2:179621006;179621005;179621004 |
| 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 | 3562 | 10909;10910;10911 | chr2:178756279;178756278;178756277 | chr2:179621006;179621005;179621004 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1263923996  |
None | None | None | None | 0.157 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs1263923996 |
None | None | None | None | 0.157 | None | gnomAD-4.0.0 | 6.56849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46977E-05 | 0 | 0 |
| I/V | rs767095590 |
-1.251 | None | None | None | 0.123 | None | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 1.65893E-04 |
| I/V | rs767095590 |
-1.251 | None | None | None | 0.123 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs767095590 |
-1.251 | None | None | None | 0.123 | None | gnomAD-4.0.0 | 4.95728E-06 | None | None | None | None | N | None | 0 | 1.66656E-05 | None | 0 | 0 | None | 0 | 0 | 5.08561E-06 | 0 | 1.60108E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1721 | likely_benign | None | None | -2.041 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.5806 | likely_pathogenic | None | None | -1.345 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.5146 | ambiguous | None | None | -2.128 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.3642 | ambiguous | None | None | -2.089 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.1514 | likely_benign | None | None | -1.476 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.5435 | ambiguous | None | None | -2.399 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.2969 | likely_benign | None | None | -1.645 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.1959 | likely_benign | None | None | -1.359 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1367 | likely_benign | None | None | -1.094 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/M | 0.101 | likely_benign | None | None | -0.879 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/N | 0.2045 | likely_benign | None | None | -1.299 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.8733 | likely_pathogenic | None | None | -1.383 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.2777 | likely_benign | None | None | -1.489 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.1276 | likely_benign | None | None | -0.774 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.176 | likely_benign | None | None | -1.895 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.0794 | likely_benign | None | None | -1.746 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/V | 0.0704 | likely_benign | None | None | -1.383 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/W | 0.6759 | likely_pathogenic | None | None | -1.633 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.4082 | ambiguous | None | None | -1.394 | 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.