Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28528 | 85807;85808;85809 | chr2:178560550;178560549;178560548 | chr2:179425277;179425276;179425275 |
| N2AB | 26887 | 80884;80885;80886 | chr2:178560550;178560549;178560548 | chr2:179425277;179425276;179425275 |
| N2A | 25960 | 78103;78104;78105 | chr2:178560550;178560549;178560548 | chr2:179425277;179425276;179425275 |
| N2B | 19463 | 58612;58613;58614 | chr2:178560550;178560549;178560548 | chr2:179425277;179425276;179425275 |
| Novex-1 | 19588 | 58987;58988;58989 | chr2:178560550;178560549;178560548 | chr2:179425277;179425276;179425275 |
| Novex-2 | 19655 | 59188;59189;59190 | chr2:178560550;178560549;178560548 | chr2:179425277;179425276;179425275 |
| 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/I | rs753861250  |
-0.489 | 0.873 | D | 0.545 | 0.263 | 0.600533121316 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/I | rs753861250 |
-0.489 | 0.873 | D | 0.545 | 0.263 | 0.600533121316 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.31044E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs753861250 |
-0.489 | 0.873 | D | 0.545 | 0.263 | 0.600533121316 | gnomAD-4.0.0 | 5.12769E-06 | None | None | None | None | N | None | 0 | 3.39236E-05 | None | 0 | 0 | None | 0 | 0 | 4.78719E-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 | 0.3591 | ambiguous | 0.3507 | ambiguous | -1.862 | Destabilizing | 0.892 | D | 0.532 | neutral | N | 0.502117381 | None | None | N |
| V/C | 0.7565 | likely_pathogenic | 0.7687 | pathogenic | -1.426 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| V/D | 0.8925 | likely_pathogenic | 0.8876 | pathogenic | -2.359 | Highly Destabilizing | 0.935 | D | 0.767 | deleterious | D | 0.544962163 | None | None | N |
| V/E | 0.603 | likely_pathogenic | 0.626 | pathogenic | -2.159 | Highly Destabilizing | 0.073 | N | 0.509 | neutral | None | None | None | None | N |
| V/F | 0.3203 | likely_benign | 0.2941 | benign | -1.115 | Destabilizing | 0.994 | D | 0.754 | deleterious | N | 0.51719667 | None | None | N |
| V/G | 0.5106 | ambiguous | 0.4696 | ambiguous | -2.359 | Highly Destabilizing | 0.967 | D | 0.764 | deleterious | D | 0.533352368 | None | None | N |
| V/H | 0.8124 | likely_pathogenic | 0.8161 | pathogenic | -2.14 | Highly Destabilizing | 0.997 | D | 0.799 | deleterious | None | None | None | None | N |
| V/I | 0.0953 | likely_benign | 0.098 | benign | -0.486 | Destabilizing | 0.873 | D | 0.545 | neutral | D | 0.527568006 | None | None | N |
| V/K | 0.4422 | ambiguous | 0.4753 | ambiguous | -1.328 | Destabilizing | 0.95 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/L | 0.5139 | ambiguous | 0.5022 | ambiguous | -0.486 | Destabilizing | 0.773 | D | 0.527 | neutral | N | 0.501570722 | None | None | N |
| V/M | 0.2373 | likely_benign | 0.2277 | benign | -0.662 | Destabilizing | 0.996 | D | 0.633 | neutral | None | None | None | None | N |
| V/N | 0.7442 | likely_pathogenic | 0.738 | pathogenic | -1.612 | Destabilizing | 0.975 | D | 0.809 | deleterious | None | None | None | None | N |
| V/P | 0.9869 | likely_pathogenic | 0.9848 | pathogenic | -0.918 | Destabilizing | 0.987 | D | 0.768 | deleterious | None | None | None | None | N |
| V/Q | 0.4888 | ambiguous | 0.5114 | ambiguous | -1.48 | Destabilizing | 0.95 | D | 0.769 | deleterious | None | None | None | None | N |
| V/R | 0.3836 | ambiguous | 0.4083 | ambiguous | -1.22 | Destabilizing | 0.975 | D | 0.805 | deleterious | None | None | None | None | N |
| V/S | 0.5431 | ambiguous | 0.5382 | ambiguous | -2.209 | Highly Destabilizing | 0.975 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/T | 0.4646 | ambiguous | 0.4639 | ambiguous | -1.876 | Destabilizing | 0.916 | D | 0.58 | neutral | None | None | None | None | N |
| V/W | 0.9358 | likely_pathogenic | 0.9264 | pathogenic | -1.612 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| V/Y | 0.7314 | likely_pathogenic | 0.7309 | pathogenic | -1.215 | Destabilizing | 0.996 | D | 0.761 | deleterious | 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.