Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3548 | 10867;10868;10869 | chr2:178757578;178757577;178757576 | chr2:179622305;179622304;179622303 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3502 | 10729;10730;10731 | chr2:178757578;178757577;178757576 | chr2:179622305;179622304;179622303 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1386570246  |
-1.202 | None | None | None | 0.332 | None | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | I | None | 0 | 3.01E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs1386570246 |
-1.202 | None | None | None | 0.332 | None | gnomAD-4.0.0 | 1.63618E-06 | None | None | None | None | I | None | 0 | 2.35217E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1186138216 |
-0.884 | None | None | None | 0.124 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| A/T | rs1186138216 |
-0.884 | None | None | None | 0.124 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1186138216 |
-0.884 | None | None | None | 0.124 | None | gnomAD-4.0.0 | 6.57073E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7847 | likely_pathogenic | None | None | -0.863 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/D | 0.3212 | likely_benign | None | None | -1.111 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/E | 0.358 | ambiguous | None | None | -1.149 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/F | 0.6437 | likely_pathogenic | None | None | -1.056 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/G | 0.2744 | likely_benign | None | None | -1.216 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/H | 0.7797 | likely_pathogenic | None | None | -1.279 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/I | 0.447 | ambiguous | None | None | -0.448 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/K | 0.7148 | likely_pathogenic | None | None | -1.219 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/L | 0.4576 | ambiguous | None | None | -0.448 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/M | 0.3893 | ambiguous | None | None | -0.348 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/N | 0.4494 | ambiguous | None | None | -0.915 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/P | 0.983 | likely_pathogenic | None | None | -0.58 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/Q | 0.5551 | ambiguous | None | None | -1.092 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/R | 0.6884 | likely_pathogenic | None | None | -0.817 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/S | 0.1357 | likely_benign | None | None | -1.274 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/T | 0.1238 | likely_benign | None | None | -1.221 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/V | 0.2055 | likely_benign | None | None | -0.58 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/W | 0.9545 | likely_pathogenic | None | None | -1.366 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/Y | 0.7682 | likely_pathogenic | None | None | -0.98 | 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.