Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28868 | 86827;86828;86829 | chr2:178559530;178559529;178559528 | chr2:179424257;179424256;179424255 |
| N2AB | 27227 | 81904;81905;81906 | chr2:178559530;178559529;178559528 | chr2:179424257;179424256;179424255 |
| N2A | 26300 | 79123;79124;79125 | chr2:178559530;178559529;178559528 | chr2:179424257;179424256;179424255 |
| N2B | 19803 | 59632;59633;59634 | chr2:178559530;178559529;178559528 | chr2:179424257;179424256;179424255 |
| Novex-1 | 19928 | 60007;60008;60009 | chr2:178559530;178559529;178559528 | chr2:179424257;179424256;179424255 |
| Novex-2 | 19995 | 60208;60209;60210 | chr2:178559530;178559529;178559528 | chr2:179424257;179424256;179424255 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1702826806  |
None | 0.001 | N | 0.131 | 0.032 | 0.298403945805 | 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 |
| V/A | rs1702826806 |
None | 0.001 | N | 0.131 | 0.032 | 0.298403945805 | gnomAD-4.0.0 | 6.57073E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| V/I | rs754143034 |
-0.486 | 0.166 | N | 0.461 | 0.032 | 0.28492961333 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/I | rs754143034 |
-0.486 | 0.166 | N | 0.461 | 0.032 | 0.28492961333 | gnomAD-4.0.0 | 2.7369E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.598E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.158 | likely_benign | 0.1049 | benign | -1.524 | Destabilizing | 0.001 | N | 0.131 | neutral | N | 0.384394022 | None | None | N |
| V/C | 0.6766 | likely_pathogenic | 0.5889 | pathogenic | -1.091 | Destabilizing | 0.972 | D | 0.609 | neutral | None | None | None | None | N |
| V/D | 0.4655 | ambiguous | 0.333 | benign | -1.508 | Destabilizing | 0.491 | N | 0.617 | neutral | N | 0.43043853 | None | None | N |
| V/E | 0.4092 | ambiguous | 0.2867 | benign | -1.476 | Destabilizing | 0.561 | D | 0.566 | neutral | None | None | None | None | N |
| V/F | 0.1961 | likely_benign | 0.149 | benign | -1.115 | Destabilizing | 0.772 | D | 0.614 | neutral | N | 0.479173839 | None | None | N |
| V/G | 0.251 | likely_benign | 0.1741 | benign | -1.866 | Destabilizing | 0.326 | N | 0.5 | neutral | N | 0.4190481 | None | None | N |
| V/H | 0.6031 | likely_pathogenic | 0.4575 | ambiguous | -1.321 | Destabilizing | 0.991 | D | 0.581 | neutral | None | None | None | None | N |
| V/I | 0.0713 | likely_benign | 0.0683 | benign | -0.67 | Destabilizing | 0.166 | N | 0.461 | neutral | N | 0.418874742 | None | None | N |
| V/K | 0.4499 | ambiguous | 0.3085 | benign | -1.413 | Destabilizing | 0.561 | D | 0.558 | neutral | None | None | None | None | N |
| V/L | 0.1833 | likely_benign | 0.1313 | benign | -0.67 | Destabilizing | 0.003 | N | 0.155 | neutral | N | 0.437460503 | None | None | N |
| V/M | 0.1246 | likely_benign | 0.0957 | benign | -0.578 | Destabilizing | 0.818 | D | 0.545 | neutral | None | None | None | None | N |
| V/N | 0.294 | likely_benign | 0.2008 | benign | -1.269 | Destabilizing | 0.818 | D | 0.632 | neutral | None | None | None | None | N |
| V/P | 0.3762 | ambiguous | 0.2772 | benign | -0.921 | Destabilizing | 0.004 | N | 0.457 | neutral | None | None | None | None | N |
| V/Q | 0.3946 | ambiguous | 0.2862 | benign | -1.383 | Destabilizing | 0.901 | D | 0.604 | neutral | None | None | None | None | N |
| V/R | 0.4354 | ambiguous | 0.3094 | benign | -0.886 | Destabilizing | 0.901 | D | 0.633 | neutral | None | None | None | None | N |
| V/S | 0.2006 | likely_benign | 0.1395 | benign | -1.766 | Destabilizing | 0.209 | N | 0.467 | neutral | None | None | None | None | N |
| V/T | 0.1712 | likely_benign | 0.1222 | benign | -1.611 | Destabilizing | 0.007 | N | 0.134 | neutral | None | None | None | None | N |
| V/W | 0.8307 | likely_pathogenic | 0.7527 | pathogenic | -1.32 | Destabilizing | 0.991 | D | 0.611 | neutral | None | None | None | None | N |
| V/Y | 0.5521 | ambiguous | 0.4378 | ambiguous | -1.035 | Destabilizing | 0.901 | D | 0.611 | neutral | 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.