Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 14220 | 42883;42884;42885 | chr2:178633841;178633840;178633839 | chr2:179498568;179498567;179498566 |
N2AB | 12579 | 37960;37961;37962 | chr2:178633841;178633840;178633839 | chr2:179498568;179498567;179498566 |
N2A | 11652 | 35179;35180;35181 | chr2:178633841;178633840;178633839 | chr2:179498568;179498567;179498566 |
N2B | 5155 | 15688;15689;15690 | chr2:178633841;178633840;178633839 | chr2:179498568;179498567;179498566 |
Novex-1 | 5280 | 16063;16064;16065 | chr2:178633841;178633840;178633839 | chr2:179498568;179498567;179498566 |
Novex-2 | 5347 | 16264;16265;16266 | chr2:178633841;178633840;178633839 | chr2:179498568;179498567;179498566 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/F | rs777534842 | -0.644 | 0.984 | D | 0.807 | 0.422 | 0.624477516964 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
S/F | rs777534842 | -0.644 | 0.984 | D | 0.807 | 0.422 | 0.624477516964 | gnomAD-4.0.0 | 1.36884E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31943E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/A | 0.1784 | likely_benign | 0.1606 | benign | -0.77 | Destabilizing | 0.64 | D | 0.523 | neutral | N | 0.434870136 | None | None | N |
S/C | 0.1548 | likely_benign | 0.1575 | benign | -0.351 | Destabilizing | 0.999 | D | 0.75 | deleterious | N | 0.445867316 | None | None | N |
S/D | 0.8985 | likely_pathogenic | 0.8988 | pathogenic | 0.203 | Stabilizing | 0.919 | D | 0.681 | prob.neutral | None | None | None | None | N |
S/E | 0.9463 | likely_pathogenic | 0.9392 | pathogenic | 0.223 | Stabilizing | 0.919 | D | 0.678 | prob.neutral | None | None | None | None | N |
S/F | 0.7633 | likely_pathogenic | 0.7269 | pathogenic | -0.846 | Destabilizing | 0.984 | D | 0.807 | deleterious | D | 0.574440421 | None | None | N |
S/G | 0.2312 | likely_benign | 0.2571 | benign | -1.047 | Destabilizing | 0.919 | D | 0.679 | prob.neutral | None | None | None | None | N |
S/H | 0.8214 | likely_pathogenic | 0.8144 | pathogenic | -1.391 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
S/I | 0.6503 | likely_pathogenic | 0.5825 | pathogenic | -0.135 | Destabilizing | 0.976 | D | 0.789 | deleterious | None | None | None | None | N |
S/K | 0.9789 | likely_pathogenic | 0.9757 | pathogenic | -0.463 | Destabilizing | 0.919 | D | 0.679 | prob.neutral | None | None | None | None | N |
S/L | 0.4184 | ambiguous | 0.3717 | ambiguous | -0.135 | Destabilizing | 0.851 | D | 0.766 | deleterious | None | None | None | None | N |
S/M | 0.5052 | ambiguous | 0.5255 | ambiguous | 0.05 | Stabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
S/N | 0.5912 | likely_pathogenic | 0.5627 | ambiguous | -0.406 | Destabilizing | 0.919 | D | 0.671 | neutral | None | None | None | None | N |
S/P | 0.9701 | likely_pathogenic | 0.9749 | pathogenic | -0.312 | Destabilizing | 0.984 | D | 0.773 | deleterious | D | 0.535538861 | None | None | N |
S/Q | 0.9074 | likely_pathogenic | 0.9006 | pathogenic | -0.481 | Destabilizing | 0.988 | D | 0.755 | deleterious | None | None | None | None | N |
S/R | 0.9646 | likely_pathogenic | 0.9569 | pathogenic | -0.447 | Destabilizing | 0.976 | D | 0.767 | deleterious | None | None | None | None | N |
S/T | 0.0729 | likely_benign | 0.0882 | benign | -0.477 | Destabilizing | 0.016 | N | 0.277 | neutral | N | 0.436612201 | None | None | N |
S/V | 0.4994 | ambiguous | 0.4511 | ambiguous | -0.312 | Destabilizing | 0.851 | D | 0.765 | deleterious | None | None | None | None | N |
S/W | 0.8827 | likely_pathogenic | 0.8746 | pathogenic | -0.81 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
S/Y | 0.718 | likely_pathogenic | 0.6835 | pathogenic | -0.541 | Destabilizing | 0.995 | D | 0.792 | deleterious | N | 0.491751066 | 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.