Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 33231 | 99916;99917;99918 | chr2:178537516;178537515;178537514 | chr2:179402243;179402242;179402241 |
N2AB | 31590 | 94993;94994;94995 | chr2:178537516;178537515;178537514 | chr2:179402243;179402242;179402241 |
N2A | 30663 | 92212;92213;92214 | chr2:178537516;178537515;178537514 | chr2:179402243;179402242;179402241 |
N2B | 24166 | 72721;72722;72723 | chr2:178537516;178537515;178537514 | chr2:179402243;179402242;179402241 |
Novex-1 | 24291 | 73096;73097;73098 | chr2:178537516;178537515;178537514 | chr2:179402243;179402242;179402241 |
Novex-2 | 24358 | 73297;73298;73299 | chr2:178537516;178537515;178537514 | chr2:179402243;179402242;179402241 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F/L | None | None | 0.959 | N | 0.497 | 0.336 | 0.366466682447 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F/A | 0.8814 | likely_pathogenic | 0.814 | pathogenic | -2.873 | Highly Destabilizing | 0.993 | D | 0.655 | neutral | None | None | None | None | N |
F/C | 0.5943 | likely_pathogenic | 0.5386 | ambiguous | -1.551 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.504042493 | None | None | N |
F/D | 0.9745 | likely_pathogenic | 0.9563 | pathogenic | -2.418 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
F/E | 0.9377 | likely_pathogenic | 0.8923 | pathogenic | -2.275 | Highly Destabilizing | 0.997 | D | 0.791 | deleterious | None | None | None | None | N |
F/G | 0.9488 | likely_pathogenic | 0.9216 | pathogenic | -3.253 | Highly Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
F/H | 0.6071 | likely_pathogenic | 0.5287 | ambiguous | -1.482 | Destabilizing | 0.994 | D | 0.772 | deleterious | None | None | None | None | N |
F/I | 0.4963 | ambiguous | 0.4211 | ambiguous | -1.663 | Destabilizing | 0.994 | D | 0.67 | neutral | N | 0.446802344 | None | None | N |
F/K | 0.8726 | likely_pathogenic | 0.8204 | pathogenic | -1.795 | Destabilizing | 0.998 | D | 0.795 | deleterious | None | None | None | None | N |
F/L | 0.9175 | likely_pathogenic | 0.9021 | pathogenic | -1.663 | Destabilizing | 0.959 | D | 0.497 | neutral | N | 0.400008474 | None | None | N |
F/M | 0.7169 | likely_pathogenic | 0.6642 | pathogenic | -1.264 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | None | N |
F/N | 0.8463 | likely_pathogenic | 0.7792 | pathogenic | -1.993 | Destabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | N |
F/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.071 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
F/Q | 0.8094 | likely_pathogenic | 0.7369 | pathogenic | -2.081 | Highly Destabilizing | 0.997 | D | 0.803 | deleterious | None | None | None | None | N |
F/R | 0.7779 | likely_pathogenic | 0.7156 | pathogenic | -1.075 | Destabilizing | 0.998 | D | 0.805 | deleterious | None | None | None | None | N |
F/S | 0.7261 | likely_pathogenic | 0.6125 | pathogenic | -2.734 | Highly Destabilizing | 0.999 | D | 0.755 | deleterious | N | 0.426504429 | None | None | N |
F/T | 0.785 | likely_pathogenic | 0.6968 | pathogenic | -2.5 | Highly Destabilizing | 0.999 | D | 0.76 | deleterious | None | None | None | None | N |
F/V | 0.5381 | ambiguous | 0.4593 | ambiguous | -2.071 | Highly Destabilizing | 0.972 | D | 0.632 | neutral | N | 0.473199511 | None | None | N |
F/W | 0.6068 | likely_pathogenic | 0.5628 | ambiguous | -0.54 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
F/Y | 0.1672 | likely_benign | 0.153 | benign | -0.872 | Destabilizing | 0.062 | N | 0.349 | neutral | N | 0.438449432 | 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.