Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26461 | 79606;79607;79608 | chr2:178566751;178566750;178566749 | chr2:179431478;179431477;179431476 |
| N2AB | 24820 | 74683;74684;74685 | chr2:178566751;178566750;178566749 | chr2:179431478;179431477;179431476 |
| N2A | 23893 | 71902;71903;71904 | chr2:178566751;178566750;178566749 | chr2:179431478;179431477;179431476 |
| N2B | 17396 | 52411;52412;52413 | chr2:178566751;178566750;178566749 | chr2:179431478;179431477;179431476 |
| Novex-1 | 17521 | 52786;52787;52788 | chr2:178566751;178566750;178566749 | chr2:179431478;179431477;179431476 |
| Novex-2 | 17588 | 52987;52988;52989 | chr2:178566751;178566750;178566749 | chr2:179431478;179431477;179431476 |
| 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 | rs1351446352  |
-2.676 | 0.939 | D | 0.564 | 0.739 | 0.693223118719 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/A | rs1351446352 |
-2.676 | 0.939 | D | 0.564 | 0.739 | 0.693223118719 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs1351446352 |
-2.676 | 0.939 | D | 0.564 | 0.739 | 0.693223118719 | gnomAD-4.0.0 | 6.57808E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47102E-05 | 0 | 0 |
| V/I | None | None | 0.76 | D | 0.512 | 0.248 | 0.458013479912 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.6289 | likely_pathogenic | 0.6915 | pathogenic | -2.571 | Highly Destabilizing | 0.939 | D | 0.564 | neutral | D | 0.557746134 | None | None | N |
| V/C | 0.9169 | likely_pathogenic | 0.928 | pathogenic | -2.049 | Highly Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/D | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | -3.527 | Highly Destabilizing | 0.997 | D | 0.892 | deleterious | D | 0.657111259 | None | None | N |
| V/E | 0.9935 | likely_pathogenic | 0.995 | pathogenic | -3.231 | Highly Destabilizing | 0.998 | D | 0.847 | deleterious | None | None | None | None | N |
| V/F | 0.8838 | likely_pathogenic | 0.9207 | pathogenic | -1.427 | Destabilizing | 0.982 | D | 0.727 | prob.delet. | D | 0.587206694 | None | None | N |
| V/G | 0.8674 | likely_pathogenic | 0.9062 | pathogenic | -3.132 | Highly Destabilizing | 0.997 | D | 0.866 | deleterious | D | 0.657111259 | None | None | N |
| V/H | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -2.968 | Highly Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| V/I | 0.115 | likely_benign | 0.1135 | benign | -0.931 | Destabilizing | 0.76 | D | 0.512 | neutral | D | 0.530696816 | None | None | N |
| V/K | 0.9966 | likely_pathogenic | 0.9977 | pathogenic | -2.12 | Highly Destabilizing | 0.993 | D | 0.843 | deleterious | None | None | None | None | N |
| V/L | 0.4389 | ambiguous | 0.5865 | pathogenic | -0.931 | Destabilizing | 0.02 | N | 0.304 | neutral | D | 0.522419315 | None | None | N |
| V/M | 0.7145 | likely_pathogenic | 0.7866 | pathogenic | -1.221 | Destabilizing | 0.986 | D | 0.614 | neutral | None | None | None | None | N |
| V/N | 0.9917 | likely_pathogenic | 0.992 | pathogenic | -2.737 | Highly Destabilizing | 0.998 | D | 0.899 | deleterious | None | None | None | None | N |
| V/P | 0.9932 | likely_pathogenic | 0.9948 | pathogenic | -1.461 | Destabilizing | 0.998 | D | 0.867 | deleterious | None | None | None | None | N |
| V/Q | 0.9919 | likely_pathogenic | 0.9938 | pathogenic | -2.415 | Highly Destabilizing | 0.998 | D | 0.884 | deleterious | None | None | None | None | N |
| V/R | 0.9914 | likely_pathogenic | 0.994 | pathogenic | -2.098 | Highly Destabilizing | 0.993 | D | 0.901 | deleterious | None | None | None | None | N |
| V/S | 0.9397 | likely_pathogenic | 0.9461 | pathogenic | -3.219 | Highly Destabilizing | 0.993 | D | 0.826 | deleterious | None | None | None | None | N |
| V/T | 0.8681 | likely_pathogenic | 0.8754 | pathogenic | -2.784 | Highly Destabilizing | 0.976 | D | 0.573 | neutral | None | None | None | None | N |
| V/W | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -2.018 | Highly Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | N |
| V/Y | 0.9904 | likely_pathogenic | 0.9928 | pathogenic | -1.753 | Destabilizing | 0.998 | D | 0.729 | prob.delet. | 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.