Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 6425 | 19498;19499;19500 | chr2:178728653;178728652;178728651 | chr2:179593380;179593379;179593378 |
N2AB | 6108 | 18547;18548;18549 | chr2:178728653;178728652;178728651 | chr2:179593380;179593379;179593378 |
N2A | 5181 | 15766;15767;15768 | chr2:178728653;178728652;178728651 | chr2:179593380;179593379;179593378 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/M | rs1306888379 | -0.94 | 0.007 | N | 0.325 | 0.169 | 0.230578612272 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
I/M | rs1306888379 | -0.94 | 0.007 | N | 0.325 | 0.169 | 0.230578612272 | gnomAD-4.0.0 | 6.84414E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99616E-07 | 0 | 0 |
I/V | rs1375877907 | -1.43 | None | N | 0.099 | 0.099 | 0.399159426805 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/A | 0.6374 | likely_pathogenic | 0.5005 | ambiguous | -2.288 | Highly Destabilizing | 0.061 | N | 0.478 | neutral | None | None | None | None | N |
I/C | 0.9299 | likely_pathogenic | 0.887 | pathogenic | -1.555 | Destabilizing | 0.94 | D | 0.61 | neutral | None | None | None | None | N |
I/D | 0.9855 | likely_pathogenic | 0.9707 | pathogenic | -2.892 | Highly Destabilizing | 0.94 | D | 0.699 | prob.neutral | None | None | None | None | N |
I/E | 0.9579 | likely_pathogenic | 0.92 | pathogenic | -2.62 | Highly Destabilizing | 0.593 | D | 0.671 | neutral | None | None | None | None | N |
I/F | 0.3821 | ambiguous | 0.2837 | benign | -1.452 | Destabilizing | 0.002 | N | 0.199 | neutral | None | None | None | None | N |
I/G | 0.9487 | likely_pathogenic | 0.9109 | pathogenic | -2.819 | Highly Destabilizing | 0.593 | D | 0.631 | neutral | None | None | None | None | N |
I/H | 0.9343 | likely_pathogenic | 0.8804 | pathogenic | -2.364 | Highly Destabilizing | 0.94 | D | 0.643 | neutral | None | None | None | None | N |
I/K | 0.9102 | likely_pathogenic | 0.8388 | pathogenic | -1.799 | Destabilizing | 0.351 | N | 0.648 | neutral | N | 0.507171762 | None | None | N |
I/L | 0.0991 | likely_benign | 0.0852 | benign | -0.721 | Destabilizing | None | N | 0.079 | neutral | N | 0.390755139 | None | None | N |
I/M | 0.1192 | likely_benign | 0.0989 | benign | -0.735 | Destabilizing | 0.007 | N | 0.325 | neutral | N | 0.516554083 | None | None | N |
I/N | 0.881 | likely_pathogenic | 0.786 | pathogenic | -2.331 | Highly Destabilizing | 0.836 | D | 0.686 | prob.neutral | None | None | None | None | N |
I/P | 0.9464 | likely_pathogenic | 0.9162 | pathogenic | -1.23 | Destabilizing | 0.94 | D | 0.695 | prob.neutral | None | None | None | None | N |
I/Q | 0.9068 | likely_pathogenic | 0.8452 | pathogenic | -2.088 | Highly Destabilizing | 0.836 | D | 0.675 | neutral | None | None | None | None | N |
I/R | 0.8459 | likely_pathogenic | 0.7379 | pathogenic | -1.786 | Destabilizing | 0.655 | D | 0.701 | prob.neutral | N | 0.507171762 | None | None | N |
I/S | 0.8523 | likely_pathogenic | 0.734 | pathogenic | -2.916 | Highly Destabilizing | 0.418 | N | 0.581 | neutral | None | None | None | None | N |
I/T | 0.5977 | likely_pathogenic | 0.4114 | ambiguous | -2.485 | Highly Destabilizing | 0.183 | N | 0.515 | neutral | N | 0.508902827 | None | None | N |
I/V | 0.1156 | likely_benign | 0.0982 | benign | -1.23 | Destabilizing | None | N | 0.099 | neutral | N | 0.46645055 | None | None | N |
I/W | 0.9152 | likely_pathogenic | 0.8723 | pathogenic | -1.802 | Destabilizing | 0.983 | D | 0.638 | neutral | None | None | None | None | N |
I/Y | 0.8341 | likely_pathogenic | 0.7621 | pathogenic | -1.488 | Destabilizing | 0.264 | N | 0.609 | neutral | 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.