Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 29579 | 88960;88961;88962 | chr2:178554612;178554611;178554610 | chr2:179419339;179419338;179419337 |
N2AB | 27938 | 84037;84038;84039 | chr2:178554612;178554611;178554610 | chr2:179419339;179419338;179419337 |
N2A | 27011 | 81256;81257;81258 | chr2:178554612;178554611;178554610 | chr2:179419339;179419338;179419337 |
N2B | 20514 | 61765;61766;61767 | chr2:178554612;178554611;178554610 | chr2:179419339;179419338;179419337 |
Novex-1 | 20639 | 62140;62141;62142 | chr2:178554612;178554611;178554610 | chr2:179419339;179419338;179419337 |
Novex-2 | 20706 | 62341;62342;62343 | chr2:178554612;178554611;178554610 | chr2:179419339;179419338;179419337 |
Novex-3 | None | None | chr2:None | chr2:None |
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 | rs777595903 | -0.159 | 0.978 | N | 0.463 | 0.308 | 0.564541561611 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
V/A | rs777595903 | -0.159 | 0.978 | N | 0.463 | 0.308 | 0.564541561611 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
V/A | rs777595903 | -0.159 | 0.978 | N | 0.463 | 0.308 | 0.564541561611 | gnomAD-4.0.0 | 2.56215E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78535E-06 | 0 | 0 |
V/D | None | None | 0.999 | N | 0.637 | 0.529 | 0.728753902033 | gnomAD-4.0.0 | 1.59102E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8578E-06 | 0 | 0 |
V/F | rs879204059 | None | 0.999 | N | 0.523 | 0.291 | 0.652406804477 | 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 |
V/F | rs879204059 | None | 0.999 | N | 0.523 | 0.291 | 0.652406804477 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 0 |
V/I | rs879204059 | None | 0.768 | N | 0.356 | 0.173 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
V/I | rs879204059 | None | 0.768 | N | 0.356 | 0.173 | None | gnomAD-4.0.0 | 9.91472E-06 | None | None | None | None | I | None | 1.33497E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27135E-05 | 0 | 0 |
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 | 0.3968 | ambiguous | 0.3402 | ambiguous | -0.524 | Destabilizing | 0.978 | D | 0.463 | neutral | N | 0.445271909 | None | None | I |
V/C | 0.8894 | likely_pathogenic | 0.8658 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.569 | neutral | None | None | None | None | I |
V/D | 0.7978 | likely_pathogenic | 0.74 | pathogenic | -0.435 | Destabilizing | 0.999 | D | 0.637 | neutral | N | 0.424069918 | None | None | I |
V/E | 0.7177 | likely_pathogenic | 0.6387 | pathogenic | -0.516 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | I |
V/F | 0.3942 | ambiguous | 0.3363 | benign | -0.65 | Destabilizing | 0.999 | D | 0.523 | neutral | N | 0.494353935 | None | None | I |
V/G | 0.4881 | ambiguous | 0.4101 | ambiguous | -0.655 | Destabilizing | 0.999 | D | 0.621 | neutral | N | 0.384239306 | None | None | I |
V/H | 0.8863 | likely_pathogenic | 0.8408 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
V/I | 0.0877 | likely_benign | 0.0847 | benign | -0.31 | Destabilizing | 0.768 | D | 0.356 | neutral | N | 0.458990568 | None | None | I |
V/K | 0.7921 | likely_pathogenic | 0.7076 | pathogenic | -0.518 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | I |
V/L | 0.2819 | likely_benign | 0.2004 | benign | -0.31 | Destabilizing | 0.958 | D | 0.495 | neutral | N | 0.386282321 | None | None | I |
V/M | 0.2387 | likely_benign | 0.198 | benign | -0.614 | Destabilizing | 0.998 | D | 0.545 | neutral | None | None | None | None | I |
V/N | 0.6526 | likely_pathogenic | 0.5704 | pathogenic | -0.38 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | I |
V/P | 0.7164 | likely_pathogenic | 0.648 | pathogenic | -0.35 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | I |
V/Q | 0.7121 | likely_pathogenic | 0.6258 | pathogenic | -0.568 | Destabilizing | 0.999 | D | 0.592 | neutral | None | None | None | None | I |
V/R | 0.7345 | likely_pathogenic | 0.6551 | pathogenic | -0.01 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | I |
V/S | 0.5503 | ambiguous | 0.4798 | ambiguous | -0.725 | Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | None | I |
V/T | 0.4292 | ambiguous | 0.3655 | ambiguous | -0.704 | Destabilizing | 0.992 | D | 0.457 | neutral | None | None | None | None | I |
V/W | 0.9401 | likely_pathogenic | 0.9216 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
V/Y | 0.8184 | likely_pathogenic | 0.7687 | pathogenic | -0.446 | Destabilizing | 0.999 | D | 0.548 | neutral | 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.