Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28217 | 84874;84875;84876 | chr2:178561483;178561482;178561481 | chr2:179426210;179426209;179426208 |
| N2AB | 26576 | 79951;79952;79953 | chr2:178561483;178561482;178561481 | chr2:179426210;179426209;179426208 |
| N2A | 25649 | 77170;77171;77172 | chr2:178561483;178561482;178561481 | chr2:179426210;179426209;179426208 |
| N2B | 19152 | 57679;57680;57681 | chr2:178561483;178561482;178561481 | chr2:179426210;179426209;179426208 |
| Novex-1 | 19277 | 58054;58055;58056 | chr2:178561483;178561482;178561481 | chr2:179426210;179426209;179426208 |
| Novex-2 | 19344 | 58255;58256;58257 | chr2:178561483;178561482;178561481 | chr2:179426210;179426209;179426208 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs888839405  |
None | 0.295 | N | 0.59 | 0.25 | 0.431035450679 | 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 |
| S/F | rs888839405 |
None | 0.295 | N | 0.59 | 0.25 | 0.431035450679 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs888839405 |
None | 0.295 | N | 0.59 | 0.25 | 0.431035450679 | gnomAD-4.0.0 | 1.3147E-05 | None | None | None | None | N | None | 4.82672E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs1271151421 |
-0.383 | 0.106 | N | 0.541 | 0.167 | 0.15556083564 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 3.30633E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1271151421 |
-0.383 | 0.106 | N | 0.541 | 0.167 | 0.15556083564 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20592E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs1271151421 |
-0.383 | 0.106 | N | 0.541 | 0.167 | 0.15556083564 | gnomAD-4.0.0 | 8.67593E-06 | None | None | None | None | N | None | 1.73495E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0731 | likely_benign | 0.0741 | benign | -0.24 | Destabilizing | 0.005 | N | 0.247 | neutral | N | 0.48246486 | None | None | N |
| S/C | 0.0975 | likely_benign | 0.0937 | benign | -0.345 | Destabilizing | 0.295 | N | 0.571 | neutral | N | 0.470384961 | None | None | N |
| S/D | 0.3814 | ambiguous | 0.372 | ambiguous | 0.339 | Stabilizing | 0.031 | N | 0.366 | neutral | None | None | None | None | N |
| S/E | 0.4997 | ambiguous | 0.5014 | ambiguous | 0.247 | Stabilizing | 0.016 | N | 0.385 | neutral | None | None | None | None | N |
| S/F | 0.1602 | likely_benign | 0.172 | benign | -0.852 | Destabilizing | 0.295 | N | 0.59 | neutral | N | 0.481145382 | None | None | N |
| S/G | 0.0842 | likely_benign | 0.0819 | benign | -0.338 | Destabilizing | 0.031 | N | 0.385 | neutral | None | None | None | None | N |
| S/H | 0.2957 | likely_benign | 0.2842 | benign | -0.74 | Destabilizing | 0.356 | N | 0.579 | neutral | None | None | None | None | N |
| S/I | 0.1197 | likely_benign | 0.1184 | benign | -0.117 | Destabilizing | 0.038 | N | 0.569 | neutral | None | None | None | None | N |
| S/K | 0.5854 | likely_pathogenic | 0.584 | pathogenic | -0.35 | Destabilizing | 0.016 | N | 0.386 | neutral | None | None | None | None | N |
| S/L | 0.0766 | likely_benign | 0.0801 | benign | -0.117 | Destabilizing | 0.016 | N | 0.433 | neutral | None | None | None | None | N |
| S/M | 0.136 | likely_benign | 0.1409 | benign | -0.061 | Destabilizing | 0.356 | N | 0.58 | neutral | None | None | None | None | N |
| S/N | 0.107 | likely_benign | 0.0977 | benign | -0.124 | Destabilizing | 0.072 | N | 0.399 | neutral | None | None | None | None | N |
| S/P | 0.1309 | likely_benign | 0.1315 | benign | -0.13 | Destabilizing | 0.106 | N | 0.541 | neutral | N | 0.501511981 | None | None | N |
| S/Q | 0.426 | ambiguous | 0.423 | ambiguous | -0.337 | Destabilizing | 0.001 | N | 0.198 | neutral | None | None | None | None | N |
| S/R | 0.5304 | ambiguous | 0.5243 | ambiguous | -0.153 | Destabilizing | 0.038 | N | 0.474 | neutral | None | None | None | None | N |
| S/T | 0.0575 | likely_benign | 0.0608 | benign | -0.243 | Destabilizing | None | N | 0.159 | neutral | N | 0.401673061 | None | None | N |
| S/V | 0.1256 | likely_benign | 0.1278 | benign | -0.13 | Destabilizing | 0.016 | N | 0.447 | neutral | None | None | None | None | N |
| S/W | 0.2969 | likely_benign | 0.2894 | benign | -0.885 | Destabilizing | 0.864 | D | 0.609 | neutral | None | None | None | None | N |
| S/Y | 0.1734 | likely_benign | 0.1667 | benign | -0.579 | Destabilizing | 0.295 | N | 0.591 | neutral | N | 0.481398871 | 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.