Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3672 | 11239;11240;11241 | chr2:178756462;178756461;178756460 | chr2:179621189;179621188;179621187 |
| 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 | 3501 | 10726;10727;10728 | chr2:178756462;178756461;178756460 | chr2:179621189;179621188;179621187 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs781663025  |
0.122 | None | None | None | 0.139 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs781663025 |
0.122 | None | None | None | 0.139 | None | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | I | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3472 | ambiguous | None | None | 0.016 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/C | 0.7105 | likely_pathogenic | None | None | -0.32 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/D | 0.5584 | ambiguous | None | None | -0.043 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/E | 0.1874 | likely_benign | None | None | -0.028 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/F | 0.7453 | likely_pathogenic | None | None | -0.163 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/G | 0.4701 | ambiguous | None | None | -0.184 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/H | 0.3312 | likely_benign | None | None | -0.363 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/I | 0.361 | ambiguous | None | None | 0.466 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/L | 0.3499 | ambiguous | None | None | 0.466 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/M | 0.2585 | likely_benign | None | None | 0.123 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/N | 0.3157 | likely_benign | None | None | 0.066 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/P | 0.5948 | likely_pathogenic | None | None | 0.344 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/Q | 0.1441 | likely_benign | None | None | -0.066 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/R | 0.0972 | likely_benign | None | None | -0.088 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/S | 0.3691 | ambiguous | None | None | -0.377 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/T | 0.1845 | likely_benign | None | None | -0.215 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/V | 0.3924 | ambiguous | None | None | 0.344 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/W | 0.8238 | likely_pathogenic | None | None | -0.209 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/Y | 0.6127 | likely_pathogenic | None | None | 0.141 | Stabilizing | 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.